Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases
Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases
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DOI：
10.1093/brain/awx187
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发表时间：
2017-10-01
期刊：
影响因子：
14.5
通讯作者：
Timmerman, Vincent
中科院分区：
文献类型：
--
作者：
Adriaenssens, Elias;Geuens, Thomas;Timmerman, Vincent
小分子热休克蛋白是发挥多种细胞功能的分子伴侣。迄今为止，HSPB 1（Hsp 27）和HSPB 8（Hsp 22）编码区的突变被报道引起远端遗传性运动神经病和Charcot-MarieTooth病。最近，HSPB 1和HSPB 8突变的临床谱扩展到也包括肌病。在这里，我们提供了一个更新的分子遗传学和生物学的小热休克蛋白突变的神经肌肉疾病。
Small heat shock proteins are molecular chaperones that exert diverse cellular functions. To date, mutations in the coding regions of HSPB1 (Hsp27) and HSPB8 (Hsp22) were reported to cause distal hereditary motor neuropathy and Charcot-MarieTooth disease. Recently, the clinical spectrum of HSPB1 and HSPB8 mutations was expanded to also include myopathies. Here we provide an update on the molecular genetics and biology of small heat shock protein mutations in neuromuscular diseases.