Huntington's disease

Question 1

Huntington’s disease

Answer 1

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

Question 2

Nature of mutation

Answer 2

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

Question 3

What does defective gene produce

Answer 3

Defective gene produces abnormal Huntington protein with too many glutamine amino acids

Question 4

Symptoms

Answer 4

Clumsiness, cognitive or psychiatric symptoms, changes in behaviour

Question 5

Impact of mutation on protein

Answer 5

Too many glutamic acids to be created