ArticleScientific reports2021
Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 25 citations in OpenAlex.
- Preclinical efficacy of a gene therapy forMolecular therapy. Advances · 2026Article
- Exploratory proteomic analysis of Megaconial congenital muscular dystrophy skeletal myoblasts suggests cytoskeletal and contractile alterations.BMC neurology · 2026Article
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- Pathogenic microbiota disrupts the intact structure of cerebral organoids by altering energy metabolism.Molecular psychiatry · 2026Article
- Combining In Vivo 2-Photon Imaging with Photoactivatable Fluorescent Labeling Shows Low Rates of Mitochondrial Dynamics in Skeletal Muscle.Medicine and science in sports and exercise · 2025Article
- Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India.Annals of Indian Academy of Neurology · 2025Article
- The Curse of the Red Pearl: A Fibroblast-Specific Pearl-Necklace Mitochondrial Phenotype Caused by Phototoxicity.Biomolecules · 2025Article
- Aberrant expression of GTPase-activating protein ARAP1 triggers circular dorsal ruffles associated with malignancy in hepatocellular carcinoma Hep3B cells.Cell communication and signaling : CCS · 2025Article
- The Matrix of Mitochondrial Imaging: Exploring Spatial Dimensions.Biomolecules · 2025Review
- Estrogen-related Receptor Signaling in Skeletal Muscle Fitness.International journal of sports medicine · 2023Article
- Innately expressed estrogen-related receptors in the skeletal muscle are indispensable for exercise fitness.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2023Article
- Article
- Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.Skeletal muscle · 2022Review
- Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies.Biomedicines · 2022Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Megaconial Congenital Muscular Dystrophy (CMD) is a rare autosomal recessive disorder characterized by enlarged mitochondria located mainly at the periphery of muscle fibers and caused by mutations in the Choline Kinase Beta (CHKB) gene. Although the pathogenesis of this disease is not well understood, there is accumulating evidence for the presence of mitochondrial dysfunction. In this study, we aimed to investigate whether imbalanced mitochondrial dynamics affects mitochondrial function and bioenergetic efficiency in skeletal muscle cells of Megaconial CMD. Immunofluorescence, confocal and transmission electron microscopy studies revealed impaired mitochondrial network, morphology, and localization in primary skeletal muscle cells of Megaconial CMD. The organelle disruption was specific only to skeletal muscle cells grown in culture. The expression levels of mitochondrial fission proteins (DRP1, MFF, FIS1) were found to be decreased significantly in both primary skeletal muscle cells and tissue sections of Megaconial CMD by Western blotting and/or immunofluorescence analysis. The metabolomic and fluxomic analysis, which were performed in Megaconial CMD for the first time, revealed decreased levels of phosphonucleotides, Krebs cycle intermediates, ATP, and altered energy metabolism pathways. Our results indicate that reduced mitochondrial fission and altered mitochondrial energy metabolism contribute to mitochondrial dysmorphology and dysfunction in the pathogenesis of Megaconial CMD.
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