Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.

Cai, Huaying; Yabe, Ichiro; Sato, Kazunori; Kano, Takahiro; Nakamura, Masakazu; Hozen, Hideki; Sasaki, Hidenao

Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.

Cai, Huaying; Yabe, Ichiro; Sato, Kazunori et al.

Journal of neurology, 2012, 259(9), 1913-1922

Permalink : https://hdl.handle.net/2115/53470

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アクセス権	open access
URI	https://hdl.handle.net/2115/53470
タイトル	Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.
著者	Cai, Huaying ; Yabe, Ichiro ; Sato, Kazunori ; Kano, Takahiro ; Nakamura, Masakazu ; Hozen, Hideki ; Sasaki, Hidenao
著者名 Cai, Huaying
e-Rad_Researcher 60372273 著者名 Yabe, Ichiro
著者名 Sato, Kazunori
著者名 Kano, Takahiro
著者名 Nakamura, Masakazu
著者名 Hozen, Hideki
e-Rad_Researcher 80281806 著者名 Sasaki, Hidenao
言語	英語
キーワード	Iinclusion body myositis
	Desmin
	UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
	Myosin heavy chain IIa (MYHC2A)
	Valosin-containing protein (VCP)
	Z-band alternatively spliced PDZ-motif containing protein (ZASP)
発行日	2012-09
出版者	Springer
収録物名	Journal of neurology
巻(号)	259(9)
ページ	1913-1922
抄録	Previous studies have identified several genetic loci associated with development of familial inclusion body myopathy. However, there have been few genetic analyses of sporadic inclusion body myositis (sIBM). In order to explore the molecular basis of sIBM and to investigate genotype-phenotype correlations, we performed a clinicopathological analysis of 21 sIBM patients and screened for mutations in the Desmin, GNE, MYHC2A, VCP, and ZASP genes. All coding exons of the 5 genes were sequenced directly. Definite IBM was confirmed in 14 cases, probable IBM in 3 cases, and possible IBM in 4 cases. No cases showed missense mutations in the Desmin, GNE, or VCP genes. Three patients carried the missense mutation c.2542T>C (p.V805A) in the MYHC2A gene; immunohistochemical staining for MYHC isoforms in these 3 cases showed atrophy or loss of muscle fibers expressing MYHC IIa or IIx. One patient harbored the missense mutation c.1719G>A (p.V566M) in the ZASP gene; immunohistochemical studies of Z-band associated proteins revealed Z-band abnormalities. Both of the novel heterogeneous mutations were located in highly evolutionarily conserved domains of their respective genes. Cumulatively, these findings have expanded our understanding of the molecular background of sIBM. However, we advocate further clinicopathology and investigation of additional candidate genes in a larger cohort.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	The original publication is available at www.springerlink.com
PISSN	0340-5354
EISSN	1432-1459
関連情報	PMID 22349865
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1007/s00415-012-6439-0