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

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Title: Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.
Authors: Cai, Huaying Browse this author
Yabe, Ichiro Browse this author →KAKEN DB
Sato, Kazunori Browse this author
Kano, Takahiro Browse this author
Nakamura, Masakazu Browse this author
Hozen, Hideki Browse this author
Sasaki, Hidenao Browse this author →KAKEN DB
Keywords: Iinclusion body myositis
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)
Issue Date: Sep-2012
Publisher: Springer
Journal Title: Journal of neurology
Volume: 259
Issue: 9
Start Page: 1913
End Page: 1922
Publisher DOI: 10.1007/s00415-012-6439-0
PMID: 22349865
Abstract: 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.
Rights: The original publication is available at
Type: article (author version)
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 矢部 一郎

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