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Heteroplasmy
Homoplasmy
MERRF
● Rare
● Childhood onset
● Seizures
● Ataxia
● Myopathy
● Ragged Red Fibers
● 90% mutation makes symptoms obvious
● Interferes with aminoacylation, codon-anticodon
interaction
MELAS
● Most common inherited
mitochondrial disease
● Strokes
● Ataxia
● Myopathy
● Lactic acidosis
● Potential to combine with
MERRF
LHON
● Mitochondria disorder of eye
● Loss of central vision
● Fading of colors
● 5x more common in males than females
● 18 possible missense mutations
● Homoplasmy is common
Kearns-Sayre
● Sporatic somatic deletion
● Heteroplasmic
● Occurs before age 20
● Systemic, but commonly eye related
Treatments
● NOTHING EFFECTIVE!