Mitochondrial Disease Flashcards
What is the phenotype of Leber Hereditary Opitc Neuropathy (LHON)?
Gradual central vision loss
Onset in teens-20 years
50% of males and 10% of females will develop disease
What is the most common mutation in LHON?
m.117786G>A
What does MELAS stand for?
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes
What is the phenotype of MELAS?
Stoke-like episodes=temporary muscle weakness on one side of the body
Vision problems
Seizures
Headaches
Wolf-Parkinson While
Hearing Loss
DM
Repeated episodes can damage the brain
What is the most common mutation in MELAS?
m.3243A>G
What is the phenotype of Leigh syndrome?
Severe pediatric encephalopathy
Loss of mental and movement abilities
Difficulty swallowing and failure to thrive
Paralysis of eye muscles
Brain lesions
mtDNA and nuclear mutations
What does MERRF stand for?
Myoclonic epilepsy with ragged red fibers
What is the phenotype of MERRF?
Myoclonus (20%)
Ataxia
Myopathy
Seizures
HL
Eyelid ptosis
Multiple lipomatosis
What is the most common mutation in MERRF?
m.8344A>G
What does NARP stand for?
Neuropathy, Ataxia, and Retinitis Pigmentosa
What is the phenotype of Progressive External Ophthalmoplegia?
Ocular myopathy
Progressive eyelid ptosis
Chin-up compensatory head position
Severe fatigue, pain, depression, swallowing impairment, decreased respirator strength
What should a person with Non syndromic hearing loss (NSHL) avioid?
Aminoglycosides antibiotic (gentamycin, streptomycin, etc)
What is the phenotype of Pearson syndrome?
Sideroblastic anemia and pancreatic dysfunction
Onset:infancy
What is the phenotype of Kearns Sayer syndrome?
Paralysis of the eye muscles
Cardiac conduction defects
Ataxia
What is the cause of Kearns Sayer syndrome?
Single, large-scale deletion of mtDNA
