Diseases

Question 0

Creutzfeldt-Jakob disease

Answer 0

Prion disease caused by abnormal protein folding into ß-sheets and subsequent aggregation of these sheets into Heinz bodies. Neurodegenerative disease, giving the affected tissue a spongy appearance. Clinical presentation as quickly progressing dementia.

Question 1

Sickle cell disease

Answer 1

Genetic mutation on the short arm of chromosome 11 causing the substitution of a valine for a glutamate in the beta subunit of human Hb. This causes abnormal protein folding into “sickle” shape.