Gene: [0Mh3230/MTTL1] tRNA leucine 1 (mitochondrial); MELAS (myopathy, encephalopathy, lactic acidosis and stroke-like episodes; MIM:540000); Ballinger-Wallace syndrome (diabetes-deafness; MIM:520000); cardiomyopathy, hypertrophic; [MELAS ]
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PAT |
The A to G point mutation at position 3243 of the mitochondrial DNA tRNALeu(UUR) gene is commonly found in patients with the syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Infants with this mutation commonly present with failure to thrive, significant developmental delay, and hypotonia, while stroke-like episodes occur later in survivors. They usually have lactic acidosis and a high percentage of mutant mtDNA in muscle. Respiratory chain disorders including the mtDNA MTTL1*MELAS3243G mutation should be suspected in infants with this systemic and neurologic presentation. Pancreatic dysfunction, both acute and chronic, needs to be added to the list of symptoms of disorders of the respiratory chain (Kishnani-1996)." |
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GEN |
The gene length: 0.07 kb (75 bp). |
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FAG |
Another gene coding for tRNALeu is mapped to H-strain of mitochondrial DNA: GEM:0Mh12266/MTTL2." |
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REF |
MUT "Goto Y &: BBA, 1097, 238-240, 1991 REV,PAT,MUT "Hammans SR&: Brain, 118, (Pt 3), 721-734, 1995 PAT,MUT,EXP "Hao H &: JBC, 271, 2347-2352, 1996 PAT,MUT "Houshmand M &: Hum Genet, 97, 269-273, 1996 MUT "Kishnani PS &: Eur J Pediatr, 155, N10, 898-903, 1996 MUT,PAT "Suzuki Y &: Diabetes Care, 19, N7, 739-743, 1996 PAT,MUT "van den Ouweland JMW &: Nature Genet, 1, 368-371, 1992 |
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KEY |
aac, mito, trl, neu, myo, horm |
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CLA |
coding, basic |
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LOC |
0M H3230-3304 |
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MIM |
MIM: 590050 |
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SYN |
MELAS |
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