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Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare genetic disorder, causing diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders. It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D.〔Wolfram, D. J.; Wagener, H. P. : Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin. Proc. 13: 715-718, 1938.〕 The disease affects the central nervous system (especially the brainstem). ==Causes== Wolfram syndrome was initially thought to be caused by mitochondrial dysfunction due to its symptoms and several reports of mitochondrial mutations. However, it has now been established that Wolfram syndrome is caused by endoplasmic reticulum dysfunction.〔(Urano, F. Diabetes. 2014 Mar;63(3):844-6. )〕 Two genetic forms have been described: Wolfram syndrome 1 (WFS1),〔(OMIM 222300 (WFS1) )〕 and Wolfram syndrome 2 (WFS2)〔(OMIM 604928 (WFS2) )〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Wolfram syndrome」の詳細全文を読む スポンサード リンク
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