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首页> 外文期刊>Journal of neurology >Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.
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Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.

机译：日本人散发性包涵体肌炎的临床，病理和基因突变分析。

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Previous studies have identified several genetic loci associated with the 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 five genes were sequenced directly. Definite IBM was confirmed in 14 cases, probable IBM in three cases, and possible IBM in four 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 three 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.
机译：先前的研究已经确定了与家族性包涵体肌病发展相关的几个遗传基因座。但是，很少有散发性包涵体肌炎（sIBM）的遗传学分析。为了探索sIBM的分子基础并调查基因型与表型的相关性，我们对21例sIBM患者进行了临床病理分析，并筛选了Desmin，GNE，MYHC2A，VCP和ZASP基因中的突变。五个基因的所有编码外显子都直接测序。确定的IBM有14例，可能的有3例，有可能的有4例。没有病例显示Desmin，GNE或VCP基因发生错义突变。 3例患者的MYHC2A基因携带错义突变c.2542T> C（p.V805A）;在这三例病例中，MYHC亚型的免疫组织化学染色显示表达MYHC IIa或IIx的肌纤维萎缩或丢失。一名患者在ZASP基因中携带错义突变c.1719G> A（p.V566M）; Z波段相关蛋白的免疫组织化学研究显示Z波段异常。这两个新的异质突变均位于其各自基因的高度进化保守的结构域中。累积地，这些发现扩大了我们对sIBM分子背景的理解。但是，我们主张在更大的队列研究中进一步进行临床病理学和其他候选基因的研究。

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