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
Triplet repeat in Huntington gene, normal gene has up to 36 repeats of CAG sequence but mutant gene has more than 37
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