Biochemical and genetic analysis of Leigh syndrome patients in Korea.
Sixteen Korean patients with Leigh syndrome were identified at the Seoul National University Children's Hospital in 2001-2006. Biochemical or molecular defects were identified in 14 patients (87.5%). Thirteen patients had respiratory chain enzyme defects; 9 had complex I deficiency, and 4 had combined defects of complex I+III+IV. Based on the biochemical defects, targeted genetic studies in 4 patients with complex I deficiency revealed two heteroplasmic mitochondrial DNA mutations in ND genes. One patient had the mitochondrial DNA T8993G point mutation. No mitochondrial DNA defects were identified in 11 (68.7%) of our LS patients, who probably have mutations in nuclear DNA. Although a limited study based in a single tertiary medical center, our findings suggest that isolated complex I deficiency may be the most common cause of Leigh syndrome in Korea.
D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007723:Korea; D007888:Leigh Disease / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D009097:Multienzyme Complexes / Q000145:classification / Q000172:deficiency*; D017354:Point Mutation / Q000235:genetics*; D012189:Retrospective Studies
D004272:DNA, Mitochondrial; D009097:Multienzyme Complexes