サトウ　タカトシ   Satou Takatoshi   佐藤　孝俊    所属   医学部 医学科（東京女子医科大学病院）    職種   助教
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.
掲載誌名	正式名：Neuromuscular disorders : NMD 略　 称：Neuromuscul Disord ISSNコード：18732364/09608966
掲載区分	国外
巻・号・頁	23(3),pp.269-76
著者・共著者	Sato Takatoshi, Hayashi Yukiko K, Oya Yasushi, Kondo Tomoyoshi, Sugie Kazuma, Kaneda Daita, Houzen Hideki, Yabe Ichiro, Sasaki Hidenao, Noguchi Satoru, Nonaka Ikuya, Osawa Makiko, Nishino Ichizo
発行年月	2013/03
概要	DNAJB6, which encodes DnaJ homolog, subfamily B, member 6 (DNAJB6) was recently identified as a causative gene for limb-girdle muscular dystrophy type 1D (LGMD1D). DNAJB6 is a member of heat shock protein 40 and contains a J domain, G/F domain and C-terminal domain. Only three different mutations have been identified in 11 families. In this study, we identified seven Japanese individuals from four unrelated families who carried a DNAJB6 mutation. We found a novel p.Phe96Ile substitution and a previously reported p.Phe96Leu change in the G/F domain of DNAJB6. All affected individuals showed slowly progressive muscle weakness, mainly in their legs, and their muscle pathology showed cytoplasmic inclusions and rimmed vacuoles. Our immunohistochemical analysis detected cytoplasmic accumulations associated with chaperone-assisted selective autophagy together with intranuclear accumulations of DNAJB6 and heat shock 22-kD protein 8 (HSPB8). This is the first report of Asian patients with LGMD1D. Our new findings may contribute to understanding the pathological mechanisms of this myopathy.
DOI	10.1016/j.nmd.2012.12.010
PMID	23394708