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미토콘드리아 DNA 돌연변이에 따른 Leigh 증후군의 임상 양상 분석

Other Titles
 Leigh Syndrome: Subgroup Aanalysis according to Mitochondrial DNA Mutation 
Authors
 지나리  ;  허선미  ;  김세훈  ;  이민정  ;  이철호  ;  이영목 
Citation
 Journal of the Korean Child Neurology Society (대한소아신경학회지), Vol.26(1) : 7-12, 2018 
Journal Title
 Journal of the Korean Child Neurology Society (대한소아신경학회지) 
ISSN
 1226-6884 
Issue Date
2018
Keywords
Mitochondria ; Mitochondrial DNA ; Leigh syndrome ; Alanine ; Brainstem
Abstract
Purpose: 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.
Files in This Item:
T201805519.pdf Download
DOI
10.26815/jkcns.2018.26.1.7
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
김세훈(Kim, Se Hoon) ORCID logo https://orcid.org/0000-0001-7516-7372
이민정(Lee, Min Jung)
이영목(Lee, Young Mock) ORCID logo https://orcid.org/0000-0002-5838-249X
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/167490
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