TLDc proteins: new players in the oxidative stress response and neurological disease.
TLDc proteins: new players in the oxidative stress response and neurological disease.
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DOI：
10.1007/s00335-017-9706-7
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发表时间：
2017-10
期刊：
影响因子：
--
通讯作者：
Oliver PL
中科院分区：
文献类型：
--
作者：
Finelli MJ;Oliver PL
氧化应激（OS）是由细胞氧化还原状态失衡引起的，可导致细胞内损伤并最终导致细胞死亡。OS发生作为正常老化的结果，但它也牵连作为一个共同的病因学因素在神经系统疾病;因此，确定新的蛋白质，调节OS的反应可能有助于设计适用于许多疾病的新的治疗方法。在这篇综述中，我们描述了最近的进展，已经取得了一系列的遗传学方法来了解一个家庭的蛋白质，共享高度保守的TLDc结构域。我们强调他们的共同能力，防止OS相关的细胞死亡和他们独特的功能特性，以及讨论他们作为新的神经保护因子的潜在应用。此外，随着在TLDc蛋白TBC 1D 24中发现越来越多的导致癫痫和听力损失的致病突变，了解该家族的功能对一系列遗传性神经系统疾病具有重要意义。
Oxidative stress (OS) arises from an imbalance in the cellular redox state, which can lead to intracellular damage and ultimately cell death. OS occurs as a result of normal ageing, but it is also implicated as a common etiological factor in neurological disease; thus identifying novel proteins that modulate the OS response may facilitate the design of new therapeutic approaches applicable to many disorders. In this review, we describe the recent progress that has been made using a range of genetic approaches to understand a family of proteins that share the highly conserved TLDc domain. We highlight their shared ability to prevent OS-related cell death and their unique functional characteristics, as well as discussing their potential application as new neuroprotective factors. Furthermore, with an increasing number of pathogenic mutations leading to epilepsy and hearing loss being discovered in the TLDc protein TBC1D24, understanding the function of this family has important implications for a range of inherited neurological diseases.
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