Huntington’s Disease

By: RJ BarrettPeriod: 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.• 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.

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.

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.

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

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.

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.

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.

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.

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.

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

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.

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/image2

53480g.jpg• http://www.kumc.edu/hospital/huntingtons/behavior.html• http://odlarmed.com/wp-content/uploads/2009/01/5martin5

06.jpg• http://geneticsf.labanca.net/?p=652• http://discoverysedge.mayo.edu/de07-2-neuro-mcmurray/in

dex.cfm

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