National Institute of Advanced Industrial Science and Technology

Kobe University

Osaka Prefectural Hospital Organization

Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology

Hiroshi Manya

Tamao Endo

Kazuhiro Kobayashi

Yasunori Chiba

Yoshifumi Jigami

Aruto Yoshida

Shigemi Sugioka

Yoshinao Wada

Yoriko Takeuchi, Legal Representative

Tatsushi Toda

Motoi Kanagawa

Michiko Tajiri

Provided is a therapeutic agent that effectively acts on a disease associated with abnormal glycosylation of dystroglycan. Also provided is a testing method for diseases associated with abnormal glycosylation of dystroglycan. Specifically, provided is a therapeutic agent for diseases associated with abnormal glycosylation of dystroglycan, containing CDP-ribitol as an active ingredient. Ribitol-phosphate is important in the glycan structure of dystroglycan. In order for ribitol-phosphate to be incorporated into a dystroglycan glycan, a material therefor (sugar donor) is required. In the present invention, it has been found for the first time that CDP-ribitol serves as the sugar donor. It has been confirmed that the glycan of ISPD-deficient cells can be restored by administering CDP-ribitol. Thus, the present invention, which allows CDP-ribitol to be utilized for supplementation therapy, has been completed.

Therapeutic agent for diseases associated with abnormalities in dystroglycan sugar chain modification and method for assaying associated enzyme

The present invention relates to an enzyme having novel N-acetylglucosaminyltransferase (OMGnT) activity, a polynucleotide encoding the enzyme, a recombinant polynucleotide comprising the polynucleotide, a host cell comprising the recombinant polynucleotide, a method for producing an enzyme protein having OMGnT activity by culturing the host cell in a medium, and a method for modifying a sugar chain structure with the enzyme and a carbohydrate having a sugar chain structure modified by the method. This enzyme enables the production of complex carbohydrates, which could not be formed with conventional glycosyltransferases.

N-acetylglucosaminlytransferase and polynucleotide encoding the same

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Tokyo, Japan

Hiroshi Manya