Table 1 Brief summary of clinical symptoms associated with each mutation.
Cybrid cell name | MELAS | MERRF | m.Val | m.Trp | m.ND6 |
|---|---|---|---|---|---|
tRNA/protein and mutation | tRNA Leu m.3243 A > G (MELAS) | tRNA Lys m. 8344 A > G (MERRF) | tRNA Val m. 1643A > G | tRNA Trp m. 5514 A > G | ND6 m.14487 T > C |
Organ | Clinical features | ||||
Brain | Stroke-like episodes, typically before age 40 years Encephalopathy with seizures and/or dementia Normal early psychomotor development Recurrent headache | Myoclonus Generalized epilepsy Ataxia Dementia Pyramidal signs | Normal early psychomotor development Epilepsy Brain atrophy Dyskinetic movement Dystonic tetraplegia Loss of oral communication | Reduced spontaneous movements | Progressive generalized dystonia and bilateral striatal necrosis |
Nerve | Recurrent vomiting | Peripheral neuropathy | Peripheral neuropathy | Global delay in myelination Recurrent vomiting | |
Muscle | Mitochondrial myopathy, evidenced by lactic acidosis and/or ragged red fibers (RRF) on muscle biopsy | Myopathy Ragged-red fibers (RRF) in the muscle biopsy Ophthalmoparesis | Muscle atrophy Lactic acidosis | Muscle atrophy Hypotonia Lactic acidosis. | |
Heart | Cardiomyopathy | ||||
Eyes | Optic atrophy Pigmentary retinopathy | ||||
Ears | Sensorineural hearing loss | ||||
Systemic | Exercise intolerance Short stature Multiple lipomas | Low weight and height | |||
Reference | |||||
