Huntington's disease Flashcards
1
Q
Huntington’s disease
A
Inherited autosomal dominant disease that causes progressive break down of nerve cells in the brain, symptoms usually appearing in 30s or 40s, death occurring 10-30 years later
2
Q
Nature of mutation
A
more than 37 CAG repeats in HTT gene
3
Q
What does defective gene produce?
A
Defective gene produces abnormal Huntington protein with too many glutamine amino acids
4
Q
Symptoms
A
Clumsiness, cognitive or psychiatric symptoms, changes in behaviour.
5
Q
Impact of mutation on protein
A
Too many glutamic acids to be created
