Peripheral Neuropathy Research Group, Institute Born Bunge, University of Antwerp, Antwerpen, Belgium.
Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerpen, Belgium.
Brain. 2017 Oct 1;140(10):2541-2549. doi: 10.1093/brain/awx187.
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-Marie-Tooth 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.
小分子热休克蛋白是分子伴侣，具有多种细胞功能。迄今为止，已有报道称 HSPB1（Hsp27）和 HSPB8（Hsp22）编码区的突变可导致遗传性远端运动神经病和 Charcot-Marie-Tooth 病。最近，HSPB1 和 HSPB8 突变的临床谱也扩展到肌病。本文就神经肌肉疾病中小分子热休克蛋白突变的分子遗传学和生物学提供最新研究进展。
