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Ultrastructural Changes in Skeletal Muscle of Infants with Mitochondrial Respiratory Chain Complex I Defects

Authors
 Ji Young Mun  ;  Min Kyo Jung  ;  Se Hoon Kim  ;  Soyong Eom  ;  Sung Sik Han  ;  Young-Mock Lee 
Citation
 Journal of Clinical Neurology, Vol.13(4) : 359-365, 2017 
Journal Title
 Journal of Clinical Neurology 
ISSN
 1738-6586 
Issue Date
2017
Keywords
infant ; mitochondria ; muscle pathology ; respiratory chain complex ; transmission electron microscopy ; ultrastructure
Abstract
BACKGROUND AND PURPOSE: The pathogenesis of mitochondrial disease (MD) involves the disruption of cellular energy metabolism, which results from defects in the mitochondrial respiratory chain complex (MRC). We investigated whether infants with MRC I defects showed ultrastructural changes in skeletal muscle. METHODS: Twelve infants were enrolled in this study. They were initially evaluated for unexplained neurodegenerative symptoms, myopathies, or other progressive multiorgan involvement, and underwent muscle biopsies when MD was suspected. Muscle tissue samples were subjected to biochemical enzyme assays and observation by transmission electron microscopy. We compared and analyzed the ultrastructure of skeletal muscle tissues obtained from patients with and without MRC I defects. RESULTS: Biochemical enzyme assays confirmed the presence of MRC I defects in 7 of the 12 patients. Larger mitochondria, lipid droplets, and fused structures between the outer mitochondrial membrane and lipid droplets were observed in the skeletal muscles of patients with MRC I defects. CONCLUSIONS: Mitochondrial functional defects in MRC I disrupt certain activities related to adenosine triphosphate synthesis that produce changes in the skeletal muscle. The ultrastructural changes observed in the infants in this study might serve as unique markers for the detection of MD.
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DOI
10.3988/jcn.2017.13.4.359
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
Kim, Se Hoon(김세훈) ORCID logo https://orcid.org/0000-0001-7516-7372
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/161025
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