The earliest symptoms are often problems with mood or mental abilities followed by general lack of coordination and un steady gait and as the disease advances un coordination and jerky body movement become more apparant.
Physical abilities become more gradually worsen untill coordinated movements become difficult and the patient is unable to talk and mental abilities generally devline into dementia.
Symptomes usually begin between 30 and 50 years of age, but can start at any age . About 8% of the cases start before the age 20 and present with symptoms similar to Parkinson.
The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called "huntingtin" ...this mean that a child of an affected person has a 50% chance of inheriting the disease.
The huntingtin gene provides the genetic information of a protein called "huntingtin protein" .
Expansion of CAG (cytosine-adenine-guanine) triplet repeats in the gene coding for huntingtin protein, result in abnormal protein which gradually damage cells in the brain.
Notes :
***Polar ziper>>>>is the repetition of the glutamine amino acid in a certain protein.
***HPA-1>>>>>>Huntingtin associated protein , it is a protein encoded by HPA-1 gene gen it was found that it binds with the mutant huntingtin protein in propotion to the number of glutamines present.
Diagnosis is by genetic testing which can be carried out at any time regardless of whether or not symptomes are present.
HD patients always have enlargement in the frontal horns of lateral ventricles.
There is no cure for HD , but some medications can be used to decrease the symptomes .....To be discussed
https://sscienceinformations.blogspot.com/2019/12/hd-medications.html?m=1
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