Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies

Human Molecular Genetics
Mariko TaniguchiTatsushi Toda

Abstract

Recent studies have revealed an association between post-translational modification of alpha-dystroglycan (alpha-DG) and certain congenital muscular dystrophies known as secondary alpha-dystroglycanopathies (alpha-DGpathies). Fukuyama-type congenital muscular dystrophy (FCMD) is classified as a secondary alpha-DGpathy because the responsible gene, fukutin, is a putative glycosyltransferase for alpha-DG. To investigate the pathophysiology of secondary alpha-DGpathies, we profiled gene expression in skeletal muscle from FCMD patients. cDNA microarray analysis and quantitative real-time polymerase chain reaction showed that expression of developmentally regulated genes, including myosin heavy chain (MYH) and myogenic transcription factors (MRF4, myogenin and MyoD), in FCMD muscle fibers is inconsistent with dystrophy and active muscle regeneration, instead more of implicating maturational arrest. FCMD skeletal muscle contained mainly immature type 2C fibers positive for immature-type MYH. These characteristics are distinct from Duchenne muscular dystrophy, suggesting that another mechanism in addition to dystrophy accounts for the FCMD skeletal muscle lesion. Immunohistochemical analysis revealed morphologically aberrant neuromusc...Continue Reading

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Citations

Sep 14, 2006·Journal of Human Genetics·Motoi Kanagawa, Tatsushi Toda
Aug 28, 2012·The Journal of Clinical Investigation·Aaron M BeedleKevin P Campbell
Jul 23, 2014·Molecular Therapy. Nucleic Acids·Xihua LiHao Ying
Jun 7, 2014·Frontiers in Aging Neuroscience·Rüdiger RudolfMichael R Deschenes
Sep 16, 2014·Frontiers in Aging Neuroscience·Kunihiro SakumaAkihiko Yamaguchi
Apr 7, 2010·Seminars in Cell & Developmental Biology·Naosuke NakamuraVladislav M Panin
Nov 8, 2008·Neuromuscular Disorders : NMD·Paul T MartinLeslie A Lyons
Oct 13, 2006·Biochemical and Biophysical Research Communications·Hui XiongTatsushi Toda
Jan 20, 2018·Muscle & Nerve·Teerin Liewluck, Margherita Milone
Aug 22, 2017·Expert Opinion on Therapeutic Targets·Kinji OhnoMikako Ito
May 7, 2016·Journal of Neurology, Neurosurgery, and Psychiatry·Kinji Ohno
Aug 8, 2021·International Journal of Molecular Sciences·Shama R IyerRichard M Lovering
Apr 7, 2009·Neuromuscular Disorders : NMD·Ruth HerbstReginald E Bittner
Jun 23, 2009·Biochimica Et Biophysica Acta·Jane E Hewitt

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