Mitochondrial Inherited Diseases Flashcards
MERRF (Myoclonic Epilepsy associated with
ragged red fiber)
The A-to-G mutation at nucleotide 8344 accounts for 80-90% of disease: MTTK (mitochondrial lysyl-tRNA gene).
MELAS (Mitochondrial Encephalomyopathy
with Lactic
Acidosis and Stroke-like episodes)
Mutations in tRNA and ND genes such as MTTL1 (3243A-G) and MTTQ (4332G-A)
LHON (Leber Hereditary Optic Neuropathy)
Common mutations in ND genes, including G11778A (69%)(ND4).
Deletoial mutations in mtDNA
KSS (Kearns-Sayre syndrome)/Pearson syndrome/CPEO (Chronic Progressive Opthalmoplegia)
Mutations in nuclear genes
PEO, Alpers/Ataxia, Leigh Syndrome
Neuro Symptoms
Myoclonus epilepsy, ataxia, and, spasticity
Muscle Symptoms
Muscle weakness and myopathy.
Eye and Ear Symptoms
Sensorineural hearing and/or vision loss
Mitochondrial Genome
24 out of a total 37 genes in mitochondrial genome code for RNA involved in the translation; 2 rRNAs and 22 tRNA