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 ]

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)."

GEN

 The gene length: 0.07 kb (75 bp).

FAG

 Another gene coding for tRNALeu is mapped to H-strain of mitochondrial DNA: GEM:0Mh12266/MTTL2."

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

KEY

 aac, mito, trl, neu, myo, horm

CLA

 coding, basic

LOC

 0M H3230-3304

MIM

 MIM: 590050

SYN

 MELAS

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