HARS1 介导的周围神经病中显性负性机制的证据。
Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy.
机构信息
Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
出版信息
FEBS J. 2021 Jan;288(1):91-94. doi: 10.1111/febs.15538. Epub 2020 Sep 17.
Abstract
The pathogenic mechanism of neuropathy-associated aminoacyl-tRNA synthetase (ARS) gene variants is poorly defined. Mullen et al. generate new models of pathogenic, dominant HARS1 mutations and show that they increase eIF2α phosphorylation and decrease protein translation in neurons. These results are consistent with a dominant-negative mechanism of ARS-mediated peripheral neuropathy. Comment on: https://doi.org/10.1111/febs.15449.
摘要
神经病变相关的氨酰-tRNA 合成酶（ARS）基因突变的发病机制尚未完全明确。Mullen 等人构建了致病性、显性 HARS1 突变的新型模型，并表明这些突变会增加神经元中 eIF2α 的磷酸化，减少蛋白质翻译。这些结果与 ARS 介导的周围神经病的显性负性机制一致。述评文章 DOI：10.1111/febs.15449。
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