Presentation on theme: "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."— Presentation transcript:
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.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.