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Biochemical and genetic analysis of Leigh syndrome patients in Korea

Cited 3 time in Web of Science Cited 5 time in Scopus
Authors
Chae, Jong-Hee; Lee, Jin Sook; Kim, Ki Joong; Hwang, Yong Seung; Hirano, Michio
Issue Date
2007-12-25
Publisher
Elsevier
Citation
Brain Dev. 2008;30(6):387-390
Keywords
Child, PreschoolDNA, Mitochondrial/*geneticsFemaleHumansInfantInfant, NewbornKoreaLeigh Disease/*genetics/*metabolismMaleMultienzyme Complexes/classification/*deficiencyPoint Mutation/*geneticsRetrospective Studies
Abstract
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.
ISSN
0387-7604 (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18155376

http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B6T50-4RDBYY8-1-1&_cdi=4988&_user=168665&_orig=search&_coverDate=06%2F30%2F2008&_sk=999699993&view=c&wchp=dGLbVzz-zSkzS&md5=dc8a7588c434ad1f9c44b75d1af9b7bf&ie=/sdarticle.pdf

http://hdl.handle.net/10371/68115
DOI
https://doi.org/10.1016/j.braindev.2007.11.001
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College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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