Ultrastructural Changes in Skeletal Muscle of Infants with Mitochondrial Respiratory Chain Complex I Defects.
10.3988/jcn.2017.13.4.359
- Author:
Ji Young MUN
1
;
Min Kyo JUNG
;
Se Hoon KIM
;
Soyong EOM
;
Sung Sik HAN
;
Young Mock LEE
Author Information
1. Department of Biomedical Laboratory Science, College of Health Sciences, Eulji University, Seongnam, Korea.
- Publication Type:Original Article
- Keywords:
mitochondria;
respiratory chain complex;
infant;
muscle pathology;
ultrastructure;
transmission electron microscopy
- MeSH:
Adenosine Triphosphate;
Biopsy;
Electron Transport*;
Energy Metabolism;
Enzyme Assays;
Humans;
Infant*;
Lipid Droplets;
Microscopy, Electron, Transmission;
Mitochondria;
Mitochondrial Diseases;
Mitochondrial Membranes;
Muscle, Skeletal*;
Muscular Diseases
- From:Journal of Clinical Neurology
2017;13(4):359-365
- CountryRepublic of Korea
- Language:English
-
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.
