Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. |
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Authors: | A Yoshida K Kobayashi H Manya K Taniguchi H Kano M Mizuno T Inazu H Mitsuhashi S Takahashi M Takeuchi R Herrmann V Straub B Talim T Voit H Topaloglu T Toda T Endo |
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Institution: | Central Laboratories for Key Technology, Kirin Brewery Co., Ltd., Kanazawa-ku, 236-0004, Yokohama, Japan. |
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Abstract: | Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl glycosylation is a rare type of protein modification that is observed in a limited number of glycoproteins of brain, nerve, and skeletal muscle. Here we isolated a human cDNA for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1), which participates in O-mannosyl glycan synthesis. We also identified six independent mutations of the POMGnT1 gene in six patients with MEB. Expression of most frequent mutation revealed a great loss of the enzymatic activity. These findings suggest that interference in O-mannosyl glycosylation is a new pathomechanism for muscular dystrophy as well as neuronal migration disorder. |
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