Ultrastructural changes in skeletal muscle of infants with mitochondrial respiratory chain complex I defects

Ji Young Mun, Min Kyo Jung, SeHoon Kim, Soyong Eom, Sung Sik Han, Young Mock Lee

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)359-365
Number of pages7
JournalJournal of Clinical Neurology (Korea)
Volume13
Issue number4
DOIs
Publication statusPublished - 2017 Oct 1

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Electron Transport Complex I
Electron Transport
Skeletal Muscle
Mitochondrial Diseases
Enzyme Assays
Muscles
Mitochondrial Membranes
Muscular Diseases
Membrane Lipids
Transmission Electron Microscopy
Energy Metabolism
Mitochondria
Adenosine Triphosphate
Observation
Biopsy

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Mun, Ji Young ; Jung, Min Kyo ; Kim, SeHoon ; Eom, Soyong ; Han, Sung Sik ; Lee, Young Mock. / Ultrastructural changes in skeletal muscle of infants with mitochondrial respiratory chain complex I defects. In: Journal of Clinical Neurology (Korea). 2017 ; Vol. 13, No. 4. pp. 359-365.
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Ultrastructural changes in skeletal muscle of infants with mitochondrial respiratory chain complex I defects. / Mun, Ji Young; Jung, Min Kyo; Kim, SeHoon; Eom, Soyong; Han, Sung Sik; Lee, Young Mock.

In: Journal of Clinical Neurology (Korea), Vol. 13, No. 4, 01.10.2017, p. 359-365.

Research output: Contribution to journalArticle

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AU - Jung, Min Kyo

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AU - Lee, Young Mock

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N2 - 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.

AB - 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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