Mitochondrial Disorders

Question 1

What are some symptoms of Kearns Sayre Syndrome?

Answer 1

progressive external opthalmoplegia and cardiac defects

caused by large scale deletions in mtDNA will several genes involved

Question 2

Pearson syndrome

Answer 2

large mtDNA deletion, bone marrow and pancreatic problems

Question 3

MELAS

Answer 3

late onset
exercise intolerance and strokes
most caused by damage to tRNA leucine

Question 4

MERRF

Answer 4

progressive seizures and muscle involvement, mutation in tRNA lysine is most common

Question 5

LHON

Answer 5

bilateral vision loss

homoplasmic mtDNA mutations