The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.
In a case of childhood-onset myoclonus epilepsy with "ragged-red fibers" (MERRF), a hitherto unreported mutation within the mitochondrial tRNA(Lys) gene was identified as the cause of the disease. Substitution G8361A was maternally inherited, heteroplasmic in all tissues tested, and correlated with mitochondrial dysfunction in individual muscle fibers. The growing number of MERRF-associated mutations within the tRNA(Lys) gene affirms the specific role of this mitochondrial tRNA in the pathogenesis of the disease.
Rossmanith
Walter
W
Neuromuscular Research Department, Institute of Anatomy, University of Vienna Medical School, Währinger Strasse 13, 1090 Vienna, Austria.
Raffelsberger
Thomas
T
Roka
Julia
J
Kornek
Barbara
B
Feucht
Martha
M
Bittner
Reginald E
RE
D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D006801:Humans; D017243:MERRF Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D012313:RNA / Q000032:analysis; D012357:RNA, Transfer, Lys / Q000235:genetics*
D012357:RNA, Transfer, Lys; D012313:RNA