筋疾患、神経筋接合部疾患、末梢神経疾患、脊椎脊髄疾患 Myopathy, Neuromuscular Disorder, Neuropathy, Spinal Disease

P3-1-234 LRP4のある変異はアグリンで誘導されるアセチルコリン受容体の重合を阻害する Mutations in LRP4 compromise agrin-mediated acetylcholine receptor clustering ○大河原美静1, 中田智彦1,2, 伊藤康友3大野欽司1 ○Bisei Ohkawara1, Tomohiko Nakata1,2, Yasutomo Ito3, Andrew G. Engel4, Kinji Ohno1 名古屋大院　医　神経遺伝情報学1, 名古屋大院　医　小児科学・成長発達医学2, 名古屋大院　医　分析機器部門3, メイヨークリニック 神経筋研究室　神経科4 Division of Neurogenetics, Nagoya Univ., Nagoya1, Dept. of Pediatrics, Nagoya Univ., Nagoya2, Division of Medical Research Engineering, Nagoya Univ., Nagoya3, Department of Neurology, Neuromuscular Research Laboratory, Mayo Clinic4 Congenital myasthenic syndromes (CMS) are heterogeneous disorders characterized by compromised neuromuscular signal transmission. Fourteen molecules causing CMS have been identified to date. Exome-capture resequencing analysis followed by restriction of the mutational analysis to molecules that are specifically expressed at the neuromuscular junction (NMJ) disclosed two mutations in a gene encoding the low density lipoprotein receptor related protein 4 (LRP4). LRP4 is a MuSK activator in the agrin/LRP4/MuSK complex and facilitates clustering of acetylcholine receptor at the NMJ. We demonstrate that the mutations affects LRP4 functions with agrin and MuSK.

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