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  会員専用

• ホーム
• 52巻11号
• 臨床神経, 52：1210−1212, 2012
• 52巻11号目次

＜シンポジウム（3）―1―2＞アカデミア発の創薬

縁取り空胞をともなう遠位型ミオパチー（GNEミオパチー）に対するシアル酸補充療法

西野　一三, 野口　悟

国立精神・神経医療研究センター神経研究所疾病研究第一部〔〒187―8502 東京都小平市小川東町4―1―1〕
トランスレーショナル・メディカルセンター臨床開発部

Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy, for which new nomenclature "GNE myopathy" is now proposed, is an autosomal recessive disease that preferentially affects tibialis anterior and hamstrings muscles in young adults. The disease is caused by mutations, mostly missense, in GNE gene that encodes a protein with two enzymatic activities in sialic acid biosynthetic pathway: UDP-GlcNAc 2-epimerase and ManNAc kinase. Accordingly, sialic acid production is reduced in patients' cells and cells are hyposialylated. This hyposialylation status can be recovered by simply giving sialic acid. Furthermore, myopathic manifestations were virtually completely suppressed by oral administration of sialic acid in our model mice. Similar efficacy was seen also by ManNAc, precursor of sialic acid, or sialyllactose, a conjugate form of sialic acid. Based upon these in vitro and in vivo results, phase I clinical trial for sialic acid supplementation therapy for human patients was performed in October 2010-June 2011 in Japan and in September 2011-April 2012 in the US, the latter using slow release tablets of sialic acid. Natural history of the patients needs to be established for precise evaluation of the efficacy in the near future phase II clinical trial.
Full Text of this Article in Japanese PDF (208K)

(臨床神経, 52：1210−1212, 2012)
key words：縁取り空胞をともなう遠位型ミオパチー，遺伝性封入体ミオパチー，GNEミオパチー，縁取り空胞，シアル酸

（受付日：2012年5月25日）