Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy.
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy.
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DOI：
10.1038/s41439-018-0009-7
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发表时间：
2018
影响因子：
1.5
通讯作者：
Nishino I
中科院分区：
文献类型：
--
作者：
Inoue M;Iida A;Hayashi S;Mori-Yoshimura M;Nagaoka A;Yoshimura S;Shiraishi H;Tsujino A;Takahashi Y;Nonaka I;Hayashi YK;Noguchi S;Nishino I
VCP突变首先与包涵体肌病伴佩吉特骨病和额颞叶痴呆（IBMPFD）相关，但后来与肌萎缩侧索硬化和腓骨肌萎缩症相关。现在，一个新的名称，“多系统蛋白质病（MSP）”，提出了这种情况。VCP编码包含valosin的蛋白质，其参与泛素蛋白酶体系统中的蛋白质降解。我们在这里报告了两名MSP患者，他们在VCP中具有两种新型杂合错义变体：c.259G>T（p.Val87Phe）和c.376A>G（p.Ile126Val）。
VCP mutations were first associated with inclusion body myopathy with Paget’s disease of bone and frontotemporal dementia (IBMPFD) but was later associated with amyotrophic lateral sclerosis and Charcot–Marie–Tooth disease. Now, a new name, “multisystem proteinopathy (MSP)”, is proposed for this condition. VCP encodes valosin-containing protein, which is involved in protein degradation in the ubiquitin proteasome system. We report here two MSP patients with two novel heterozygous missense variants in VCP: c.259G>T (p.Val87Phe) and c.376A>G (p.Ile126Val).