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Ann Child Neurol > Volume 26(1); 2018 > Article
Journal of the Korean Child Neurology Society 2018;26(1):7-12.
DOI: https://doi.org/10.26815/jkcns.2018.26.1.7    Published online March 30, 2018.
Leigh Syndrome: Subgroup Aanalysis according to Mitochondrial DNA Mutation.
Na Lee Jee, Sun Mi Her, Se Hoon Kim, Min Jung Lee, Chul Ho Lee, Young Mock Lee
1Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea. ymleemd@yuhs.ac
2Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
Leigh syndrome (LS) is a rare, progressive neurodegenerative disorder with characteristic abnormalities in the central nervous system. Such patients present with heterogeneous clinical symptoms and genetic abnormalities; thus, prognosis is difficult to anticipate. The present study investigates whether distinct patient characteristics are associated with mitochondrial DNA (mtDNA) mutation in LS patients. METHODS: We retrospectively analyzed data from patients diagnosed with LS at our hospital who were assessed using genomic sequencing of mtDNA. A subgroup analysis was performed to divide patients according to the mtDNA sequencing results. RESULTS: Among the 85 patients enrolled, 18 had mtDNA mutations. Most patients had lactic acidosis and a lactate/pyruvate ratio above 20, indicating respiratory chain abnormalities. In the subgroup analysis, the mutation group had a significantly higher female-to-male ratio, alanine level, ocular involvement, and midbrain and medulla abnormalities on magnetic resonance imaging (MRI). CONCLUSION: The subgroup analysis indicates that mtDNA sequencing is recommended for female patients, or those who exhibit ocular involvement, high alanine levels, or MRI findings with lesions in the midbrain and medulla.
Key Words: Mitochondria, Mitochondrial DNA, Leigh syndrome, Alanine, Brainstem


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