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Transcript of Huntington's Disease
Huntington's disease is a neurodegenerative genetic disorder that affects muscle coordination
Symptoms of Huntington's disease can begin at any age
Genetic testing can confirm if an individual or embryo carries the disease
The genetic test for Huntington's Disease consists of a blood test in which a numerical count is taken of the repetion of CAG(a codon that codes for the amino acid glutamine) in the HTT alleles
Despite the availability of pre-sympotmatic testing, only 5% of those at risk of inheriting HD choose to do so
Huntington's Disease is a genetic trait that lies in a dominant gene
Impaired Motor Movements
Degradation of Mental State
Unfortunately, despite research a cure for Huntington's Disease has still not been found
Huntington's Disease takes over the brain and impairs control over emotions and body movement
Symptoms generally appear during old age, but cases have developed during earlier ages
Micro View of Huntington's Disease
Huntington protein normally interacts with nerve cells in the brain but due to the malignant formation of the protein, a mutation or transfor- mation disrupts this process
Affect on Homeostasis
Due to the degradation of the brain, various neurological effects occur:
Difficulty with Movement
Inability to perform motor functions
Overstimulation and lack of stimulation of nerve cells
Gradual decline of motor function usually ends in death 15-18 years after showing signs of the disease
Testing is used to determine whether or not a person with a family history of Huntingtins Disease but no current symptoms, posesses the gene associated with the disease
Testing also includes a physical exam to discover any signs of dementia and abnormal movement associated with early symptoms of the disease
Genetic counseling is also available to ensure the person understands, and is prepared to accept, the results
There is presently no cure for this disease despite research and experimentation with this malignant chromosome mutation
A cure is being worked on now by a pharmaceutical group that is developing a drug that would block the action of genes containing the mHTT protein
Image Sources Cited
Statistics for Huntington's Disease
Huntinton's disease affects an estimated 3-7 people per 100,000 people of European an- cestry (The disease appears to be less common in other populations)
In the US alone, about 30,000 people are diagnosed with Huntington's Disease
Only a small number of cases (1-3%) of Huntington's Disease cases are sporadic, meaning they occur without previous history of Huntington's Disease
Contraction and Occurance in the Human Body
Symptoms of Huntington's Disease
Huntington's Disease causes deterioration of nerve cells in the brain
Thank you for listening to our presentation on Huntington's Disease. We hope we've reached our goal of educating you on this condition.