Gene: [0Mh8295/MTTK] tRNA lysine (mitochondrial); MERRF syndrome (myoclonus epilepsy associated with ragged-red fibers; MIM:545000); cardiomyopathy and deafness; mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE; MIM:550900); [TRMK ]
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MUT |
A specific mutation in MERRF syndrome was first demonstrated as a missense mutation in the gene for transfer RNA for lysine (Shoffner-1990). The A-to-G mutation at nucleotide 8344 accounts for 80 to 90% of MERRF cases (Shoffner-1992). Biochemically, the mutation produces multiple deficiencies in the enzyme complexes of the respiratory chain, most prominently involving NADH-CoQ reductase (complex I) in cytochrome c oxidase (complex IV; FAM:COX/00.0), consistent with a defect in translation of all mtDNA-encoded genes (Wallace-1988; Bindoff-1991). The transfer of mtDNAs carrying the mutation to human cell lines lacking their own mitochondrial DNA resulted in a severe defect in mitochondrial translation in the recipient cells, independent of nuclear background, implying that the tRNA mutation itself is sufficient to cause the disease (Chomyn-1991)." |
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HET |
MERRF syndrome can be produced by mutation in more than 1 mitochondrial gene, e.g., GEM:0Ml7516/MTTS1 and GEM:0Mh3230/MTTL1." |
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GEN |
The gene length: 0.07 kb (70 bp). |
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REF |
REV,PAT,MEB "Bindoff LA &: J Neurol Sci, 102, 17-24, 1991 PAT,EXP,MEB "Chomyn A &: Mol Cell Biol, 11, 2236-2244, 1991 PAT,HIS "Fukuhara N &: J Neurol Sci, 47, 117-133, 1980 PAT "Hirano M &: Neurology, 44, N4, 721-727, 1994 MUT,PAT "Santorelli FM &: AJHG, 58, N5, 933-939, 1996 REV,PAT,FOG,TER "Shoffner JM, Wallace DC: AJHG, 51, 1179-1186, 1992 PAT,MUT "Shoffner JM &: Cell, 61, 931-937, 1990 MUT,PAT "Silvestri G &: Neurology, 43, 1200-1206, 1993 MUT,PAT "Silvestri G &: AJHG, 51, 1213-1217, 1992 MUT,PAT "Verma A &: Pediatr Res, 42, 448-454, 1997 PAT,MEB,FOG "Wallace DC &: Cell, 55, 601-610, 1988 |
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KEY |
aac, mito, trl, myo, neu |
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CLA |
coding, basic |
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LOC |
0M H8295-8364 |
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MIM |
MIM: 590060 |
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SYN |
TRMK |
