S-Space College of Medicine/School of Medicine (의과대학/대학원) Pediatrics (소아과학전공) Journal Papers (저널논문_소아과학전공)
Biochemical and genetic analysis of Leigh syndrome patients in Korea
- Chae, Jong-Hee; Lee, Jin Sook; Kim, Ki Joong; Hwang, Yong Seung; Hirano, Michio
- Issue Date
- Brain Dev. 2008;30(6):387-390
- Child, Preschool; DNA, Mitochondrial/*genetics; Female; Humans; Infant; Infant, Newborn; Korea; Leigh Disease/*genetics/*metabolism; Male; Multienzyme Complexes/classification/*deficiency; Point Mutation/*genetics; Retrospective Studies
- 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.
- 0387-7604 (Print)
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