印度关于 SIGMAR 1 基因突变导致远端遗传性神经病的新报道

Arjun G. Shah, Gaurav S. Chaudhary, Anuradha P. Mahto, Aamna Maniyar, Akash Chheda, K. Jagiasi
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摘要

远端遗传性神经病(dHMN)是一种遗传性神经肌肉疾病,其特征是以远端运动神经病变为主,导致肌肉萎缩,而感觉神经系统则明显保留。虽然偶尔会与夏科-马里-牙病(CMT)和家族性肌萎缩侧索硬化症(fALS)重叠,但这些疾病通常是不同的实体,预后较好。许多基因缺陷都与 dHMN 有关,目前的研究还在不断发现新的基因突变。其中,sigma 非阿片细胞内受体 1 基因(SIGMAR1)的突变已在不同人群中发现。SIGMAR1 编码一种非阿片类内质网蛋白,存在于中枢神经系统和外周神经系统中,在神经元的存活和维持中起着至关重要的作用。值得注意的是,SIGMAR1 基因突变与两种不同的运动神经元疾病表型有关:fALS 和 dHMN。这表明 SIGMAR1 基因突变对神经遗传学的广泛影响,有助于人们了解遗传因素与运动神经元疾病之间复杂的相互作用。新突变的不断发现强调了该领域研究的动态性,揭示了这些使人衰弱的疾病背后错综复杂的机制。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Novel reports of distal hereditary neuropathy due to mutations of SIGMAR 1 from India
Distal hereditary neuropathies (dHMN) are hereditary neuromuscular disorders characterized by predominant distal motor neuropathy, leading to muscle atrophy, with a striking preservation of the sensory nervous system. While there is occasional overlap with Charcot-Marie-tooth disease (CMT) and familial amyotrophic lateral sclerosis (fALS), these conditions typically represent distinct entities with better prognosis. Numerous gene defects are associated with dHMN, and on-going research continues to unveil novel mutations. Among these, the mutation in the sigma non-opioid intracellular receptor 1 gene (SIGMAR1) has been identified across diverse populations. SIGMAR1 encodes a non-opioid endoplasmic reticulum protein present in both the central and peripheral nervous systems, playing a crucial role in neuronal survival and maintenance. Notably, SIGMAR1 gene mutations are linked to two distinct motor neuron disease phenotypes: fALS and dHMN. This signifies the broad impact of SIGMAR1 mutations on the neurogenetic landscape, contributing to the understanding of the complex interplay between genetic factors and motor neuron disorders. The continuous discovery of new mutations emphasizes the dynamic nature of research in this field, shedding light on the intricate mechanisms underlying these debilitating conditions.
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