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Discussions

What is the name of the chromosone test for Huntington's Disease? by nurselaci Q: My father tested positive in Neurologist in another state. He is being seen by a MD now. They recommend I get tested, but my MD doesn't know which test he has to order.

A: just visit http://www.lkwdpl.org/hdsa/hdtest.htm

What chromosome(s) does Huntington disease affect? by ☺FoReVeR☺ Q: What chromosome(s) does Huntington disease affect?

Does anyone on Yahoo answers have Huntington's disease? by samneedshelp Q: I have a few questions I would like to ask someone who has Huntington's disease. Please let me know if you would be willing to give me a few minutes of your time and I would love to do this via e-mail or yahoo messenger. Thanks!!

A: Huntington's disease is a progressive, degenerative disease that causes certain nerve cells in your brain to waste away. As a result, you may experience uncontrolled movements, emotional disturbances and mental deterioration. Huntington's disease is an inherited disease. Signs and symptoms usually develop in middle age. Younger people with Huntington's disease often have a more severe case, and their symptoms may progress more quickly. Rarely, children may develop this condition. Also called Huntington's chorea, Huntington's disease was documented in 1872 by American physician George Huntington. The name "chorea" comes from the Greek word for "dance" and refers to the incessant quick, jerky, involuntary movements that are characteristic of this condition. Medications are available to help manage the signs and symptoms of Huntington's disease, but treatments can't prevent the physical and mental decline associated with the condition.

Whats a good title for a research paper on Huntington's Disease? by Erin Q: I don't want it to simple be "Huntington's Disease" I want something a little more interesting. any ideas are appreciated?

A: If it's apa format Huntington's Disease is all it need to be

Huntington's disease is inherited as a dominant trait that can show genetic anticipation.? by Armageddon Q: Suppose a parent knows that he or she has inherited a copy of the mutant allele associated with Huntington's disease. What information would the parents need to make an informed prediction about whether their child will develop the symptoms of the disease?

A: Armageddon, Presymptomatic genetic testing shows which family members are at risk for a certain genetic condition. However, there is no treatment for family members who have an alteration causing Huntington's disease and those who have this alteration are certain to get the disease. Huntington's disease is the product of a gene transmitted in an autosomally dominant inheritance pattern – this means a gene that occurs on one of the twenty-two non-sex human chromosomes and whose effect dominates its normal partner. It is entirely penetrant, which means that if a gene-carrier lives long enough, the disease is inexorably expressed. One peculiarity of Huntington's disease is that the sex of the parent transmitting the abnormal gene seems to play a role in determining the age of disease onset in offspring. Children, both male and female, who fall ill when twenty years old or younger almost invariably have inherited the disease from their fathers. Whether a gene is passed on through an egg or sperm sometimes affects its level of expressivity, a phenomenon called "imprinting." This is one possible explanation for imprinting, - that the number of methyl groups added to a gene vary, depending on the sex of the parent passing on the gene. This differential expression may, in turn, influence the timing of disease onset. Or other modifying genetic factors may alter the timing and expression of the HD gene. The identification and manipulation of these factors may lead to early therapeutic measures: if disease onset could be pushed until later in life, the illness might not be so onerous. NOTE :- See the reply of Sirzirty, above, who is offering a flawed response. The gene is not inherited from the father alone, but from either of the parents. ALL ANSWERS SHOULD BE THOROUGHLY RESEARCHED, IN ANY FORUM AND ESPECIALLY IN THIS ONE. - MANY ANSWERS ARE FLAWED. It is extremely important to obtain an accurate diagnosis before trying to find a cure. Many diseases and conditions share common symptoms. The information provided here should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. I add a link with details of this subject http://www.hda.org.uk/ charity/whatishd.html Hope this helps matador 89

Can anyone explain why huntington disease would not be detected by fetoscopy and ultrasound? by MIZZAMERICAOF2007 Q:

A: Huntingtons disease shows no symptoms until late in life, and this is why you can't detect it by ultrasound (the baby looks completely normal). However, you can detect it by fetoscopy. Huntingtons is a genetic disease, inherited by a dominant manner so you only need one copy of the gene to express the disease. Fetoscopy can be used to take a small cell sample from the featus, and this cell sample can be used for DNA testing for inherited genetic diseases, like huntingtons.

Is there anyone who has or might have Huntington's Disease? by Nicole Q: Hi, my name is Melissa and im 20 years old. I have huntington's disease, and I would love to talk to anyone who either already knows they have it, or if you still have to get tested. I would love to hear from anyone!

A: no need 2 worry about your disease. never give up hope there are new therapies every day, Huntington disease is a brain disorder. It is an inherited condition characterized by abnormal body movements, dementia, and psychiatric problems. Who gets it? It is thought that Huntington's disease affects 1 in every 10 000 people, regardless of ethnicity. Average age of onset is 35-42 years, but may start in childhood or old age. Childhood or adolescent onset occurs in approximately 10% of affected patients. Every child of a parent with the disorder has a 50% chance of inheriting Huntington's Disease due to the genetic characteristic of disease transmission. Symptoms do not usually appear until adulthood, typically between ages 35 and 50 years old but this depends on the number of repeats found in the gene so it may also appear in younger people. In children it may appear to be Parkinson's disease with rigidity, slow movements, and tremor. Predisposing Factors Every child of a parent with the disorder has a 50% chance of inheriting the genetic defect that causes Huntington's Disease. If a person inherits the gene, they will develop the illness at some point in their lives. In Huntington's disease, there are repetitions of a particular set of proteins in the genes. The higher the number of repetitions, the earlier the onset of disease, and the more severe the disease will be. Progression Huntington's disease causes progressive disability. The disorder is usually fatal within 15 to 20 years. The cause of death is often infection (of the lungs), although suicide is also common. It is important to realize that not all patients with Huntington's Disease progress at the same pace and are equally affected. It is thought the severity of the disease is based on the degree of genetic abnormality (see above in Predisposing Factors). Some patients will 'only' have mild abnormal movements later in life with slow progression of their illness, whereas others with a more significant gene abnormality may be severely affected at a young age. Probable Outcomes Huntington's disease causes progressive disability. The disorder is usually fatal within 15 to 20 years. How is it diagnosed? Diagnosis is based on a positive family history, positive clinical findings and DNA analysis of blood showing trinucleotide repeats on the affected gene. How is it treated? There is no cure for Huntington's disease, and there is no definite known way to stop progression of the disorder. Treatment is aimed at slowing the progression and maximizing the patient's ability to function for as long as possible. Psychiatric illness, depression and suicide are common in Huntington's Disease. It is important for the caretaker and the physicians who care for a person with Huntington's Disease to monitor for symptoms and treat accordingly. Genetic counseling is advised if there is a family history of Huntington's disease. This may include DNA analysis of multiple family members. Since the odds that the child of a person with Huntington's disease will be affected are so high, people with the disorder may wish to consider adoption or forms of assisted reproduction that can reduce the chance that the disease will be passed on to their children. Medications are given to control the symptoms and effects of Huntington's, such as abnormal movements, depression and other psychological disturbances. Many potential therapies have shown results in animal models of Huntington disease. Clinical trials are underway at the moment. Drugs used in the treatment of this disease: Tetrabenazine (Tetrabenazine)

Are those affected with Huntington's disease always heterozygous dominant? by turkeydinner Q: Is it possible for someone to be homozygous dominant for Huntington's disease, live past birth and able to reproduce later in life? When calculating the probability of a child to inherit Huntington's disease all of the problems in my book have heterozygous and homozygous parents reproducing. This got me wondering if it is possible to be homozygous dominant for Huntington's disease and not die immediately like someone with achondroplasia would.

A: Yes, it is possible for a person to be homozygous for Huntington's, HH, but it's very rare, because two people who are heterozygous, Hh x Hh, may choose not to have children, since there is only a 25% chance of having an unaffected child. If a heterozygous person reproduces with a recessive homozygote, they will have at least a 50% chance of having an unaffected child. Homozygotes usually get the disease earlier in life and are more affected.

If Huntington's disease is due to a dominant trait, shouldn't three-fourths of the population have Huntington'? by Q: a..In large populations, Mendelian ratios are ineffective b..Appearance of a trait in a population does not solely depend on its dominant or recessive nature c.Natural selection is eliminating Huntington’s disease

A: First of all, people saying that selection is eliminating the gene are incorrect. Huntington's disease does not cause any symptoms until late middle age - well past most people's child-bearing years. Therefore, people with the disease are just as able to have kids as are people without the disease - there is NO selective pressure present. Secondly, and this is a point I seem to have to make a dozen times a day around here, the FREQUENCY of an allele has NOTHING to do with its dominant/recessive relationship. They're completely separate concepts and are not related in any way at all. You can have rare dominant alleles just fine, just as you can have common recessive alleles, rare recessive alleles, or common dominant alleles. Or anything in between. Every new allele starts as a rare mutation. From there, its fate depends on genetic drift (random chance) and natural selection. If there's no selection, as in the case of Huntington's disease, you'd expect the allele to remain relatively stable at nearly the same frequency for a very long time.

Can symptoms of Huntington's disease can be eliminated through a special diet? by star Q: While characterized as a progressive and fatal disorder, symptoms of Huntington's disease can be eliminated through a special diet. True or False

A: True. ALL diseases can be healed through diet! - A diet that we were designed to eat and that's definitely not consuming meats, dairy and grains! We are frugivores and if we eat about 80% fruits, we can regain health. I work alongside a naturopathic doctor whose helped people cure all diseases (95% success rate) - his protocol incorporates his own herbal formulas (also food) with a frugivore diet and people cure of Huntingtons, cancer, MS, paralysis, Spina Bifida, etc.... Don't let anyone tell you that a disease cannot be reversed - I've seen it with my own eyes! It's the medical profession that is taught to believe that as medical schools are funded by pharmaceutical companies (smell a conflict of interest here?)!

Huntington Disease is a disorder associated with an abnormality involving how much human chromosome? by Q:

A: short arm of chromosome 4 http://en.wikipedia.org/wiki/Huntington%27s_disease it's a CAG repeat that makes the disorder

How quickly can Huntington's disease kill you? by cheryl_nuzum Q: If you've been diagnosed with Huntington's disease, how quickly could the disease itself kill you? Or, how quickly could a symptom kill you? (Such as muscle spasm could cause you to fall down the stairs?)

A: That kind of question/thinking can kill you very quickly; a better question for you to ask is: how long can I live with Huntington's? Depression is one of the major causes of deaths by Huntington's, and the more resources you utilize to avoid succumbing to that treatable concomitant disease, the longer your chances of living with Huntington's.

My colleague only thirty years old was diagnosed havnig Huntington disease.Is she going to die? by uncoolmom Q: I just want to know if there is a better treatment in countries like USA or UK.

A: well,hope 4 da best click these links http://www.quran-o-pathy.org.pk/diseases.html http://www.ninds.nih.gov/disorders/huntington/huntington.htm http://www.hdsa.org/ http://www.hda.org.uk/ http://www.kumc.edu/hospital/huntingtons/ http://www.neurologychannel.com/huntingtons/ http://www.nlm.nih.gov/medlineplus/huntingtonsdisease.html

Huntington's disease is caused by a dominant mutation that is not sex-linked. If a homozygous female who does by Earth Q: Huntington's disease is caused by a dominant mutation that is not sex-linked. If a homozygous female who does not carry the mutation has children with a heterozygous male that is has a mutant allele, what proportion of their offspring will display the disease?

A: This is an autosomal mutation. You can illustrate this by drawing Punets square: let dominant allele be H and recessive be h The female is homozygous recessive : hh The male is heterozygous : Hh 50% (1/2) of there offsprings will display the disease.

5. How is Huntington disease inherited? (Autosomal?Sex-linked? Recessive? Dominant?)? by Janisa G Q: && What is the probability that an individual who has one parent with Huntington disease will also have the disease? (Assume the other parent does not have the disease.)

A: Huntington's disease is an autosomal dominant trait that the onset is not shown until the individual is in their 40s in most cases. Because it is so rare, almost all on the individuals have one dominant gene and one recessive gene. Assuming "n" was the letter for this gene, it would be expressed Nn (or in the rarer cases NN). The other parent would be nn. The case of NN is so rare, its not even talked about in most literature. If memory serves correctly, the NN case causes such radical problems, that the individual dies at a very young age, though I can't seem to find any information on that. So, assuming whats known as the Nn x nn cross, meaning one parent has the disease, there is a 50% probability of it being passed on the child. Since this is an autosomal trait, it is not affected by the gender of the child. Genetic testing can be done to determine if the child has the trait. It is recommended that people who have a history of this disease in their family have genetic testing to determine if they carry this disease. It can also give the couple more information if they are thinking of having a child of their own.

Are there any symbols associated with Huntington's disease? by krista Q: I am doing a brochure for Huntington's disease and I need a picture for the front page but don't know what to put down.

A: With permission, a family affected by the disease may be willing to let you portray their photo and or "Hope For A Cure"

Ideas for making a creative title page for Huntington's Disease Report? by Q: I have to make a cover page for my report on Huntington's Disease, does anybody have any ideas, I am stumped.

What is the gene involved and diagnosis of Alzheimer disease,Muscular dystrophy,Huntington disease? by cjy x Q:

A: For muscular dystrophy, it is the dystrophin gene, located on the X chromosome. Dystrophin is actually the largest gene in our DNA

How at risk am I for getting Huntington's disease? by anonymous Q: My Mother had Huntington's Disease while she was alive. I am wondering how at-risk am I? I am the youngest of 3 children my mother had and am wondering how likely it is that I will eventually get it? I am 20 and to my knowledge I don't have any symptoms yet.

A: This depends. Huntington's is not simple. It tends to go mother to son and son to daughter, it can skip generations, you can be a carrier (you have the gene, not the disease) which is most likely, and there is adult, juvenile, and infantile. You do not just get it, if you have it it's been there since you were a zygote and you would develop symptoms depending on what particular one you had. My grandmother had adult, who gave it to my father (who died before he developed any symptoms), and I have juvenile Huntington's. If you are over 18 you can get tested, nothing can be done but it is something you should do if you ever want kids or already have them.

What specific mutation causes Huntington's disease? by krista Q: I need to know which specific mutation causes Huntington's disease, and on which chromosome the mutated gene is found on? Any help would be appreciated.

A: it is caused by a mutation in a protein called huntingtin found in chromosome 4. the nucleotide bases in that chromosome start repeating the pattern CAG too many times near the end. If the repetition is more than 40, then the person is bound to have Huntington's disease sometime in their life. If you have a lot more than 40, then you get the disease earlier and it also kills earlier. plz answer my question. http://answers.yahoo.com/question/index;_ylt=AiatfE3cTGki3AGNeZeIzdsjzKIX;_ylv=3?qid=20090524110631AAu1SeM

would you ever get tested for huntington disease? by pitbull lover 4ever Q: huntington disease is what i am learning about in school. you die from it , you have to be 18 to get tested for it. for more info google it

A: I would if I had any family history of the disease. Being that the disease is genetically transmitted via an autosomal dominant gene, I would want to know if I were wanting to reproduce. There is a 50% chance that your offspring will be affected.

is it more common for people with huntington's disease to have heterozoygous or homozygous alleles? by anna l Q: I'm doing an extended essay on genetics and I'm just trying to see if people who have Huntington's disease have heterozygous alleles or homozygous and which is more common.

A: I think you really want medicine, down the hall, three doors, to your right. Botany is the study of plants. Nevertheless -- you only need one copy of the Huntington's disease gene to develop Huntington's -- it is a dominant gene, not sex linked, on chromosome #4. As such, it would be inherited equally by males and females. In order to get two copies of the Huntington's gene, you'd need to get a copy from each parent... if the frequency of a gene in a population can be written as 1/n (as in 1 in 5 million, or 1 in 4), the odds of getting two copies of that gene are 1/n x 1/n or 1 in n**2 (1 in n-squared) in a randomly breeding population.

What would have caused Huntington disease to happen? by Nevxi Q: Or what place did it originate from.

A: It's not environmental, or isolated to an original monkey; it's been around for a long time, so it's like wanting to know who sneezed at the first cold.

What kind of results are you looking for in prenatal testing for huntington's disease? by meeeeeeee Q: And also not just prenatal but confimatory testing and presymptomatic testing for huntington's disease. Help me please.

A: What you're looking for is a dominant autosomal mutation on chromosome 4. What you're hoping for is a negative result. Anybody who carries this gene mutation is genetically destined to die a horrible death as their nervous system slowly self-destructs. The worst part is, the symptoms start around age 40, after a lot of Huntington's sufferers have married and have had children. If you do prenatal testing for it and you find out that your child is a carrier, that means either you or your spouse has it. Huntington's is a pretty hellacious diagnosis, and it's one of those things that you probably don't want to know about too far ahead of time because it dooms you. Do you want to be 25 and know that in 15 years time you will begin a 15 year decline that will eventually kill you? At the same time, do you want to have a kid only to find out later that you have the gene, meaning your kid has a chance of also carrying the gene?

If a man who is heterozygous for Huntington's disease and a woman who is homozygous recessive for the gene? by Q: If a man who is heterozygous for Huntington's disease and a woman who is homozygous recessive for the gene have a child, what is the chance that the child will have Huntington's?

A: First - the Huntington's gene is DOMINANT, not recessive Second - I don't believe you could BE homozygous for Huntington's. If you could be, it is doubtful that you could reach reproductive life.

What are the chances that Sally will have Huntington’s disease? by ralph g Q: Huntington’s disease is degenerative disease of the nervous system caused by a lethal dominant allele that has no obvious phenotypic effect until the individual is about 35 to 45 years old. What is the genotype for Sally’s father? Explain your answer. What are the chances that Sally’s mother was homozygous dominant for Huntington’s disease? Explain your answer. What are the chances that Sally will have Huntington’s disease? Explain your answer.

A: We need to see a pedigree or know some other information about the family. I expect the answer for number two to be "a very small chance" because the allele for Huntington's is pretty rare in the population and it's very unlikely that a person would get a copy of the allele from both of her parents. Can't answer the others without more info.

What are clinical features of huntington disease? by IsmotheMan Q: Can you also tell me the mode of inheritance (pedigree or punnettened square) and molecular basis for the disorder (karotype)

A: It's autosomal Dominant with anticipation. I don't believe you would find anything on karyotype. It's triplet repeat of CAG on chromosome 4 that cause the disease. clinical features: Excessive unintentional movements of any part of the body are often the reason for seeking medical consultation. If these are abrupt and have random timing and distribution, they suggest a diagnosis of HD. Cognitive or psychiatric symptoms are rarely the first diagnosed; they are usually only recognized in hindsight or when they develop further. How far the disease has progressed can be measured using the unified Huntington's disease rating scale which provides an overall rating system based on motor, behavioral, cognitive, and functional assessments. (from wiki)

Are people with Huntington's disease dangerous to others? by Q: There's a guy who lives across the street from me and my husband, who has advanced Huntington's disease (twitches, mumbles, yells at people who are not there, etc). He's been coming to our home several times in the past weeks, knocking on our door, looking inside my car, and even trying to break in a week ago! I haven't been able to find out anything about if people with Huntington's Disease are likely to be aggressive and/or cause harm to others due to their hallucinations. He has SEVERE hallucinations (he thinks he owns our home and rents it to us). Anyone know anything???? His power of attorney lies with his brother... who has not been seen by us or any of the neighbors in months. No one lives with this guy, no one cares for him, he cannot drive, and our neighbors told us he has rats and other vermin in his house. No one wants to take responsibility for him. We've called the cops two times now, because we felt threatened by him roaming around and following me home. The police told us all we could do is keep calling until a case gets built up against him, so that he will get reviewed by a judge to go to a home. We're just scared he may take it too far one day and try to hurt us or another neighbor.

A: Advanced Huntington's can indeed cause all the symptoms you describe. It sounds like this man has progressed well beyond the point where it is safe for him to live alone. It's appalling that the police don't seem to be doing anything about it. If the man is out raging and wandering again, try calling an ambulance and reporting that he is in distress and needs medical attention. Meanwhile, look in your local yellow pages under the city/county/state goverment listings. See if there is a hotline for senior services or mental health. If not, try calling the hotline for child abuse. Eventually you should get a social worker who will know how to get the man some help. Good luck.

Where does Huntington disease originate from? by Nevxi Q: I mean like what place would it had originated from?

A: Its a genetic disease, a gene that should produce a protein called "huntingtin" doesn't produce the correctly shaped proteins. These mis-shapened proteins somehow (cause is unknown) damage the tissues of the brain leading to dementia.

If one of your parents has Huntington's disease what is the probability that you will get it? by Q: Imagine that one of your parents has Huntington's disease. What is the probability that you, too, will someday manifest the disease? There is no cure for Huntington's. Would you want to be tested for the Huntington's allele? Why or why not?

A: If one parent has the disease and the other does not, your chances of getting the disease is 1/2 since Huntingdon's disease is dominant. You only need 1 allele to get the disease. Assume the affected parent is Hh, where H is the Huntingdon's disease allele and h is the unaffected allele. The other parent is unaffected, or hh. You have a 1/2 chance of getting the H allele from the affected parent. For me, I would get tested. It is better to know and plan instead of living and worrying about it everyday.

A woman has just found out that her father has Huntington’s disease? by tooyummy4mytummy Q: Her mother is then tested for the gene and is found to be normal. Which of the following applies to the woman? a. The woman has no chance of developing Huntington’s disease. b. The woman has a 25% chance of developing Huntington’s disease. c. The woman has a 50% chance of developing Huntington’s disease. d. The woman has a 100% of developing Huntington’s disease. e. There is no way of knowing if she will develop the disease or not.

A: Huntington's disease is an autosomal dominant disorder. If her father has the mutation and her mother does not, then her chance of getting the disease is 50%. Therefore C is your answer.

What are some similarities between Huntington's Disease and Down Syndrome? by Q: I am having trouble with a extra credit thing in science. I have to make a Venn-Diagram between Huntington's Disease and Down Syndrome. I cant think of many similarities, so do you'll know any? And, do you'll know some differences too? Thanks.

A: Both have a genetic basis (although a very different genetic basis). Different chromosome. Downs has an addition to the chromosome, Huntington's has a mutation on a section of a different chromosome. Phenotypically - totally different. Both can have some measure of intellectual impairment, but they are quite dissimilar. HD folks start out normal and then the disease changes things. Folks with Downs are born with their impairments (developmental disability).

Is it possible to inherit huntington's disease from grandparents, two uncles and two aunts? by cdbintn Q: My dad is the only member of his family that does not have huntington's disease. His parents, two sisters and brothers all had the disease.

A: Huntington's is caused by a gene. Anyone who has the gene will have the disease, although the symptoms may not appear until later in one person than in another. My (admittedly limited) knowledge of genetics tells me that if both your dad's parents have/had Huntington's, then your dad does, too, whether or not he has begun to show symptoms. It is possible that you will inherit it from your dad, but by no means is it certain. You and your dad both need genetic testing ASAP. Good luck.

What are the chances of my nephew having Huntington's disease? by Brandi Q: My nephews dad's mother has severe Huntington's disease, my brother in law doesnt yet have any sighns that he may have it but what are the chances of my nephew having it as he gets older? It is a disease that is passed on to your children and that some can have the gean without having the disease. The doctors wont be able to tell if he will get it until he is older. He is only 3 months right now.

A: Your nephew right now has a 25% chance of inheriting HD since his father is not showing any symptoms at this time. Should his father start showing symptoms then your nephew's chances go up to 50%. Clinical testing is one way of being told you have HD that is where a doctor checks you over after symptoms start. There is a blood test that will tell you if you carry the gene for HD which is 90-99% effective. However you have to be 18 years old before you are able to test for HD because of the complications of depression and suicide that can happen if the person knows they carry the gene. Inheriting HD from a Mother a person has somewhat better odds of not inheriting the disease as a female passes on a lower CAG repeat than a male does. But that does not mean that the mother passed on enough of the CAG repeat to place her child in the gray area. This is where you might not develop HD but can pass a higher repeat to the child causing them to have HD but the parent never does. Now the father or male can pass on a higher repeat to his child which is usually where Juvenile Huntington's Disease steps in. Due to the higher CAG repeat children are able to start symptoms and have a life span of about 15 years where an adult onset has 20-25 years. There have also been cases where a Mother passes on HD to her child so don't think it cannot happen, it does just not as often. I wish your brother in law and his family all the best.

What evidence suggests that Huntington disease is NOT inherited as a simple autosomal dominant disorder? by truegilmoregrl Q:

A: I'm guessing this is for school? The question is probably trying to get you to reply with something about the phenomenon of anticipation: Huntington's, like a number of other trinucleotide repeat disorders, has a tendency to present earlier and earlier in successive generations (i.e., grandfather with symptom onset at 50, father with onset at 40, patient with onset at 35). This is due to an expansion in the number of trinucleotide repeats in the gene (the underlying genetic abnormality). This is different than, say, a gene encoding a phenomenon like hair color which is exactly the same in succcessive generations. Otherwise, Huntington's is an autosomal dominant disorder with a "penetrance" rate approaching 100%--if you have an abnormal gene, you will develop the disease at some point in your life (unless you die of something else first).

what category of mutation that causes Huntington disease? what is the mutation disorder for this disease? by Sunp23 Q: what is a karyotype of Huntington disease? pictures plz..

A: Read here. Hope it helps.

Are strokes and cancer symptoms of Huntington's disease? by Ashley K Q: Are strokes and cancer symptoms of Huntington's disease?

A: A stroke is a symptom of cancer in extreme cases. But honestly, I don't think cancer and Huntington's is related.

Why is blue eyes recessive and Huntington disease dominant and O blood type recessive? by Jeremy Descrist Genderrmerrs Sun Q: I heard that the gene that produces less protein gets dominated. Though skin color in humans is codominant.

A: I doubt anyone here can answer that question. You should ask this in the Biology section...if you really want to know reasons behind why some traits are recessive and others dominant.

How does trinucleotide repeat mutation cause the symptoms in Huntington disease? by krista Q: Any help or info about it would be greatly appreciated. Please do not copy or paste a lot of Wikipedia stuff. thank you.

A: Trinucleotide repeat disorders that is a genetic malfunction essentially. It is when the trinucleotide repeats in certain genes exceeding the normal, stable, threshold, which differs per gene. The mutation repeats itself. If the repeat is present in a healthy gene, a dynamic mutation may increase the repeat count and result in a defective gene. Huntington’s disease (HD) and the spinocerebellar ataxias (and this is a a group of genetic disorders characterized by slowly progressive loss of coordination when you walk and often associated with poor coordination of hands, speech, and eye movements which you see in Huntingtons) that are caused by a repeat expansion in protein-coding portions of specific genes.

My girlfriends mom and brother have Huntington disease, if my gf and I have kids what is the chance they will? by Q: She's 26, what's the likelihood she will develop the disease? Her brother is 29 and has full blown HD. So a 1/4 chance my kids will have it? What's the likelihood she will have the Disease?

A: never mind lol. It's 1/4.

What are the pros and cons of knowing that their is a possibility to carry the gene for Huntington Disease? by Q: Should insurance companies be informed of genetic disease that runs in a family? Why or Why not

A: I don't think they would unless you told your doctor how could they. I would say get insured then get the genetic test done. I have a friend in this boat as well.

Can Huntington disease be detected before the child is born and how and can the carrier be detected? by cole r Q: My brother was diagnosed with this disease and im trying to figure out if i could be a carrier or not. Thanks :p

A: Huntington's is a familial disease--If either of your parents carry the HD gene you have a 50/50 chance of inheriting the disease. If you do not inherit the gene the disease stops there/your not going to pass it to your kids unless you inherited the gene. A blood test is used to check the DNA for the mutation. I read an article in national Institute of Neurological Disorders and it appears there are procedures that can be done in uterine to isolate the gene. To be honest I do not know much about that,,,sorry.

How close are they to finding a cure for Huntington’s disease? by Mr. Awesome Q: My grandmother had huntington’s and had 7 kids, 5 of those kids got huntington’s disease. Those 5 altogether had 10 kids none of those 10 have been tested. Those 10 all want kids and I need to know how close scientist are to finding a cure.

A: Huntingtons Disease Also Included In: Alzheimer's / Dementia; Parkinson's Disease Article Date: 03 Jun 2011 - 0:00 PDT Medical researchers may have uncovered a novel approach to treat an incurable and ultimately fatal neurodegenerative disease that affects hundreds of thousands of people. Two international studies, one led by the University of Leicester, and the other a collaboration with Leicester led by scientists in the USA, hold out promise for slowing down the development of Huntington's disease - and potentially, Alzheimer's and Parkinson's diseases. The research, which is in its early stages, represents an important milestone in understanding these debilitating conditions. Huntington's disease is a devastating inherited neurodegenerative disorder that is always fatal. The disorder of the central nervous system causes progressive degeneration of cells in the brain, slowly impairing a person's ability to walk, think, talk and reason. Approximately 1 in 10,000 individuals are affected worldwide. In the world-famous Department of Genetics at Leicester, the groups of Dr Flaviano Giorgini and Prof Charalambos Kyriacou found that by genetically targeting a particular enzyme in fruit-flies, kynurenine 3-monooxygenase or KMO, they arrested the development of the neurodegeneration associated with Huntington's disease. Furthermore by directly manipulating metabolites in the KMO cellular pathway with drugs, they could manipulate the symptoms that the flies displayed. The fruit-fly study, to be published in Current Biology on 7 June, was also aided by the groups of Prof Robert Schwarcz (Maryland Psychiatric Research Center, University of Maryland School of Medicine, Baltimore), who pioneered work in this area, and Dr Paul Muchowski (Gladstone Institutes, University of California, San Francisco). The two latter workers and Dr Giorgini have simultaneously published a paper in Cell, announcing a similar breakthrough in understanding the therapeutic relevance of KMO in transgenic mouse models of Huntington's and Alzheimer's diseases. The fruit-fly research at Leicester took place over three years and was funded by the Huntington's Disease Association and the CHDI Foundation, Inc. Dr Giorgini, who led the UK study, states, "This work provides the first genetic and pharmacological evidence that inhibition of a particular enzyme - KMO - is protective in an animal model of this disease, and we have also found that targeting other points in this cellular pathway can improve Huntington's disease symptoms in fruit flies. This breakthrough is important as no drugs currently exist that halt progression or delay onset of Huntington's disease. We are tremendously excited about these studies, as we hope that they will have direct ramifications for Huntington's disease patients. Our work combined with the study in our companion publication in Cell, provides important confirmation of KMO inhibition as a potential therapeutic strategy for these individuals. As many KMO inhibitors are available, and more are being developed, it is hoped that such compounds can ultimately be tested in clinical trials for this as well as other neurodegenerative disorders." In Leicester the experiments were carried out by Drs Susanna Campesan, Edward Green, and Carlo Breda and in Baltimore, by Dr Korrapati Sathyasaikumar. The collaborating teams will continue their studies aimed at enhancing the development of medical intervention in Huntington's and other neurodegenerative disorders. Cath Stanley, Chief Executive of the Huntington's Disease Association, said: "This is an exciting piece of research that will offer hope to the many people affected by Huntington's disease." Source: Dr. Flaviano Giorgini University of Leicester

Can restriction enzymes be used to treat huntington disease? by korgazklutch Q: If you have a, lets say, a 60bp (GTCx20) restriction enzyme, which will cut out 20 triplet codons CAG (huntington disease), will the person be cured if given to all cells? In huntington the tripket repeats are over 45 maybe more, so the idea was cutting out 20 or more and leave enough for proper functioning of protein. I am not sure if there are other genes that has this many repeats of CAG.

A: Sure it WOULD work if there were means to deliver it to each cell, ensure 100% restriction efficiency & specificity, and ligate the DNA nick afterwards. So far it is sci-fi; prenatal diagnostics is the way to go for now.

Huntington disease is governed by autosomal dominant inheritance. What is the likelihood that a person who has by daitheflu99 Q: Huntington disease is governed by autosomal dominant inheritance. What is the likelihood that a person who has one heterozygous affected parent and one normal parent will develop the disease? a) 50% b) 75% c) 0% (impossible) d) 100% (certain)

A: a) 50 % Because a child receives one gene from each parent. The heterozygous affected parent has one normal gene and one affected gene. This parent must give one of the two to his/her child, therefore, the probability is 50%.

A 25 year old man has Huntington disease. Is it possible for him to father a normal son? by Q: If the mother of the son is normal? Or if the mother of the son has Huntington disease? Explain why for both.

A: Yes. We will assume the man is nor homozygous for the mutation, since this would be rare (especially in the US). This means that his other copy of the gene is normal. He has a 50% chance of passing the bad gene on and a 50% chance of passing the normal gene, if the mother is "normal." It only takes one copy of the bad gene to get Huntington Disease. Gender of parent and child is irrelevant to the outcome of inheritance of Huntington Disease. The 50% chance is with each conception, without regard to the genetic status of other children. If the mother is also heterozygous with one normal gene and one bad gene, then the child has a 75% chance of getting the disease. This text box won't support a grid without formatting problems, so I will try to do this as regular text. The "H" is the bad gene and the "h" is normal. Remember that the child only needs one H to get Huntington's Disease. If the mother has 2 normal genes (hh) and the Dad has one bad gene (Hh) (and we know each parent will give one gene) the possible outcomes are Hh, Hh, hh, or hh. 50% of those (the Hh combination) have Huntington Disease. If the mother and father both have 1 bad Huntington gene, they are both Hh, Hh. The potential outcomes for the children are Hh, HH, Hh, and hh. There is a 75% chance (either the Hh or HH combination) of the child having Huntington's. If the child gets hh, they are free of Huntington's as are their future offsrping.

Is it possible for a person to have two dominate alleles for huntington disease? by stan g Q: If this is possible than would they have a 100% chance of passing huntington disease on to their children?

A: I don't think so, I am not sure one person can have a100% chance.

Huntington disease is autosomal dominant. A man who is heterozygous for Huntington disease marries a normal? by Q: Huntington disease is autosomal dominant. A man who is heterozygous for Huntington disease marries a normal woman. What are the probabilities of the phenotypes and genotypes of their offspring?

A: For an autosomal disease a individual would only need 1 diseased gene for the individual to have the disease. When the father is heterozygous and the mother is normal, the probability of the child to have the disease is 50% and the child to be completely normal both genetically and phenotypically is 50% as well. X- normal gene x- diseased gene .....X....|...X.... ------------------------- X | XX | XX | (normal XX) --------------------------- x | Xx | Xx | (Diseased Xx) ------------------------ Hope that helps.

huntington disease? by nayeli Q: how is huntington disease tranmitted genetically what are the gene called basically?

A: American doctor George Huntington first described the disorder in 1872. Huntington's disease is a disorder passed down through families in which nerve cells in the brain waste away, or degenerate. Huntington's disease is caused by a genetic defect on chromosome #4. The defect causes a part of DNA, called a CAG repeat, to occur many more times than it is supposed to. Normally, this section of DNA is repeated 10 to 35 times. But in persons with Huntington's disease, it is repeated 36 to 120 times. As the gene is passed on from one generation to the next, the number of repeats - called a CAG repeat expansion - tend to get larger. The larger the number of repeats, the greater your chance of developing symptoms at an earlier age.

Huntington Disease? by NiNi Q: For my genetics class we have to give a presentation on different genetic disorders. My topic is Huntington Disease. Is the type of mutation that causes HD considered an expansion mutation????? Also, does anyone know a website that explains SIMPLY the mechanism of action of the normal protein and how its disrupted by the defect in the disease??? HELP!

A: Is the type of mutation that causes HD considered an expansion mutation? Yes. The gene involved in Huntington's disease is located on the short arm of chromosome 4. In the first part (5'end) of the HD gene, there is a sequence of three DNA bases, cytosine-adenine-guanine (CAG), that is repeated multiple times (i.e. ...CAGCAGCAGCAG...); this is called a trinucleotide repeat. CAG is the genetic code for the amino acid glutamine, thus a series of CAG forms a chain of glutamine known as polyglutamine or (polyQ). A polyQ length of less than 36 glutamines, produces a cytoplasmic protein called huntingtin protein (Htt), whereas a sequence of 40 or more produces an erroneous form of Htt, mHtt (standing for mutant Htt). Also, does anyone know a website that explains SIMPLY the mechanism of action of the normal protein and how its disrupted by the defect in the disease? Sorry, but it isn't a well-understoon protein. Like all proteins, Htt and mHtt are translated, perform or affect biological functioning, and are finally cleared up in a process called degradation. The exact mechanism in which mHtt causes or affects the biological processes of DNA replication and programmed cell death (apoptosis) remains unclear, so research is divided into identifying the functioning of Htt, how mHtt differs or interferes with it, and the effects of remnants of the protein (known as aggregates) left after degradation. This is the best description I've found, but it is quite long: http://www.stanford.edu/group/hopes/causes/huntprot/p1.html

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