Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy

Autoři: Shigefumi Morioka aff001;  Hirofumi Sakaguchi aff002;  Hiroaki Mohri aff001;  Mariko Taniguchi-Ikeda aff003;  Motoi Kanagawa aff003;  Toshiaki Suzuki aff001;  Yuko Miyagoe-Suzuki aff005;  Tatsushi Toda aff003;  Naoaki Saito aff001;  Takehiko Ueyama aff001
Působiště autorů: Laboratory of Molecular Pharmacology, Biosignal Research Center, Kobe University, Kobe, Japan aff001;  Department of Otolaryngology-Head and Neck Surgery, Kyoto Prefectural University of Medicine, Kyoto, Japan aff002;  Division of Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan aff003;  Department of Clinical Genetics, Fujita Health University Hospital, Toyoake, Japan aff004;  Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan aff005;  Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan aff006
Vyšlo v časopise: Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy. PLoS Genet 16(5): e1008826. doi:10.1371/journal.pgen.1008826
Kategorie: Research Article
doi: 10.1371/journal.pgen.1008826


Hearing loss (HL) is one of the most common sensory impairments and etiologically and genetically heterogeneous disorders in humans. Muscular dystrophies (MDs) are neuromuscular disorders characterized by progressive degeneration of skeletal muscle accompanied by non-muscular symptoms. Aberrant glycosylation of α-dystroglycan causes at least eighteen subtypes of MD, now categorized as MD-dystroglycanopathy (MD-DG), with a wide spectrum of non-muscular symptoms. Despite a growing number of MD-DG subtypes and increasing evidence regarding their molecular pathogeneses, no comprehensive study has investigated sensorineural HL (SNHL) in MD-DG. Here, we found that two mouse models of MD-DG, Largemyd/myd and POMGnT1-KO mice, exhibited congenital, non-progressive, and mild-to-moderate SNHL in auditory brainstem response (ABR) accompanied by extended latency of wave I. Profoundly abnormal myelination was found at the peripheral segment of the cochlear nerve, which is rich in the glycosylated α-dystroglycan–laminin complex and demarcated by “the glial dome.” In addition, patients with Fukuyama congenital MD, a type of MD-DG, also had latent SNHL with extended latency of wave I in ABR. Collectively, these findings indicate that hearing impairment associated with impaired Schwann cell-mediated myelination at the peripheral segment of the cochlear nerve is a notable symptom of MD-DG.

Klíčová slova:

Auditory nerves – Axons – Cochlea – Deafness – Immunostaining – Mouse models – Nerves – Schwann cells


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