Archives of Neurology · 2005 · 78 citations · 8 references
Life SciencesMolecular GeneticsNeurologyHuman GeneticsMedical GeneticsMitochondrial GeneticsGenetic DisordersGenetic SyndromesMitochondrial DiseaseMitochondrial DisordersMitochondrial Neurological DisordersNeurogenetic DisordersLactate AcidosisLactic AcidosisMelas SyndromeMerrf SyndromeMitochondrial Dna GeneticsMitochondrial Dna MutationsMitochondrial EncephalomyopathyMutation
BACKGROUND: The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) and various overlap syndromes. OBJECTIVE: To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAS and myoclonus epilepsy with ragged-red fibers. DESIGN: Case report. PATIENT: A 25-year-old man had recurrent strokes, seizures, and myoclonus. His mother also had multiple strokes. A muscle biopsy specimen showed no ragged-red fibers but several strongly succinate dehydrogenase-reactive blood vessels. RESULTS: Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene. CONCLUSIONS: These data confirm that ND5 is a genetic hot spot for overlap syndromes, including MELAS and strokelike and myoclonus epilepsy with ragged-red fibers.
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Is the mitochondrial complex I ND5 gene a hot‐spot for MELAS causing mutations?
Danae Liolitsa, S. Rahman, Sarah Benton et al. · Annals of Neurology · 2002 · 124 citations