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Huntington’s Disease

Huntington’s Disease . By: RJ Barrett Period: 6. About Huntington’s . This disease is caused by a dominant mutation on one of the two Huntington genes that a person carries. Symptoms usually aren’t seen until the age of 35-44.

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Huntington’s Disease

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  1. Huntington’s Disease By: RJ Barrett Period: 6

  2. About Huntington’s • This disease is caused by a dominant mutation on one of the two Huntington genes that a person carries. • Symptoms usually aren’t seen until the age of 35-44. • Since the gene is dominant if one of the parents has the disease there is a 50% chance that the child will have the disease as well. • HD is one of the trinucleotide repeat disorders which means that in a normal human there is a repeated segment of DNA, in HD the repeated segment is longer than it should be which ends up causing the disease.

  3. Huntington Gene • Also known as HTT or HD, it is the IT15 gene. • It codes for a protein known as the Huntington Protein. • The exact function of Huntington is not known but it plays an important role in nerve cells.

  4. Stats • If one parent has the disease 50% of the children will inherit it • If both parents have the disease then 75% of the children will inherit it. • If both parents have it and one has two copies of the mutated Huntington gene then 100% of the children will inherit it. • In the United States roughly 30,000 people have this disease which is roughly 1 in every 10,000 people.

  5. Diagnosis • HD can be diagnosed before symptoms even begin to occur thanks to genetic testing. • Genetic testing usually confirms the diagnosis. • A positive test result doesn’t necessarily mean that the patient has the disease. • A negative test means that there is no way that you can develop HD

  6. Symptoms • Early symptoms are changes in personality, cognition and physical skills. • The most common physical symptoms and jerky, random uncontrollable movements. • Muscle control loss increases as the disease progresses- common symptoms include physical instability, abnormal facial expression, and difficultly swallowing speaking and chewing. • Thinking abilities decrease as the disease progresses such as abstract thinking, rule acquisition, initiating appropriate actions and preventing inappropriate actions.

  7. Symptoms • As the disease progresses memory issues begin to emerge. Cognitive abilities eventually reached the point of Dementia. • Other symptoms also include anxiety, depression, and aggression.

  8. Life Expectancy/ Treatment • Most people can expect to live for 20 years following the initial symptoms. • There is no cure for HD, but there are several drugs that can help reduce some of the symptoms. • Tetrabenazine reduces the severity of uncontrollable movement. • Rigidly can be treated by antiparkinsonian drugs. • Atypical antipsychotic drugs can help maintain behavioral problems.

  9. Research • The research about HD is still in its earlier stages as researchers first have to find out what exactly this protein does before they can attempt to develop a drug to treat it. • Gene silencing is potential possible. • Stem cell therapy is also a possibility.

  10. Life with HD • The quality of life isn't the best once the later symptoms set in. Someone might not be able to communicate effectively with their care-provider. They can have a difficultly performing a series of tasks. • Activities that are considered everyday become more difficult to accomplish. • Afflicted parents cant care for their children. • They can have difficultly eating food due to lose of muscle control. • They can be irritable and aggressive.

  11. Support Groups • http://www.hdsa.org/about/chapters-and-affiliates.html • http://www.dailystrength.org/c/Huntingtons-Disease/support-group • http://www.kumc.edu/hospital/huntingtons/groups.html

  12. Cure • A cure is not very likely for anytime in the near future because as it turns out Huntington is a very important protein and interacts with many other proteins in the brain making it difficult for drug developers to make an efficient drug. • Research isn’t very far so there is still a lot to be learned about this disease. • However there are several possible cures that are currently being looked at, such as stem cell therapy, but this are more of treatments rather than a cure.

  13. Sources • http://nervous-system.emedtv.com/huntington's-disease/huntington's-disease-statistics.html • http://en.wikipedia.org/wiki/Huntington's_disease • http://www.bothbrainsandbeauty.com/academic-discussions/huntingtons-disease-991 • http://wwwimage.cbsnews.com/images/2000/11/30/image253480g.jpg • http://www.kumc.edu/hospital/huntingtons/behavior.html • http://odlarmed.com/wp-content/uploads/2009/01/5martin506.jpg • http://geneticsf.labanca.net/?p=652 • http://discoverysedge.mayo.edu/de07-2-neuro-mcmurray/index.cfm

  14. Sources • http://choreahuntington.org/2010/02/24/dna-diagnostics-genetic-testing.htm • http://choreahuntington.org/wp-content/uploads/2010/02/Chorea-Huntington-8.jpg • http://choreahuntington.org/2010/02/24/dna-diagnostics-genetic-testing.htm

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