Role of the UNC13 family in human diseases: A literature review.

IF 3.1 Q2 NEUROSCIENCES AIMS Neuroscience Pub Date : 2023-12-06 eCollection Date: 2023-01-01 DOI:10.3934/Neuroscience.2023029

Ubaid Ansari, Vincent Chen, Romteen Sedighi, Burhaan Syed, Zohaer Muttalib, Khadija Ansari, Fatima Ansari, Denise Nadora, Daniel Razick, Forshing Lui

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Abstract

This literature review explores the pivotal roles of the Uncoordinated-13 (UNC13) protein family, encompassing UNC13A, UNC13B, UNC13C, and UNC13D, in the pathogenesis of various human diseases. These proteins, which are evolutionarily conserved and crucial for synaptic vesicle priming and exocytosis, have been implicated in a range of disorders, spanning from neurodegenerative diseases like amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) to immune-related conditions such as familial hemophagocytic lymphohistiocytosis (FHL). The involvement of UNC13A in neurotransmitter release and synaptic plasticity is linked to ALS and FTD, with genetic variations affecting disease progression. UNC13B, which is closely related to UNC13A, plays a role in autism spectrum disorders (ASD), epilepsy, and schizophrenia. UNC13C is implicated in oral squamous cell carcinoma (OSCC) and hepatocellular carcinoma (HCC), and has a neuroprotective role in Alzheimer's disease (AD). UNC13D has an essential role in immune cell function, making it a key player in FHL. This review highlights the distinct molecular functions of each UNC13 family member and their implications in disease contexts, shedding light on potential therapeutic strategies and avenues for future research. Understanding these proteins' roles offers new insights into the management and treatment of neurological and immunological disorders.

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UNC13 家族在人类疾病中的作用：文献综述。

这篇文献综述探讨了非协调-13（UNC13）蛋白家族（包括 UNC13A、UNC13B、UNC13C 和 UNC13D）在各种人类疾病发病机制中的关键作用。这些蛋白在进化上是保守的，对突触囊泡的启动和外吞作用至关重要，它们与一系列疾病有关，包括肌萎缩性脊髓侧索硬化症（ALS）和额颞叶痴呆症（FTD）等神经退行性疾病，以及家族性嗜血细胞淋巴组织细胞增多症（FHL）等免疫相关疾病。UNC13A 参与神经递质释放和突触可塑性与 ALS 和 FTD 有关，遗传变异会影响疾病的进展。与 UNC13A 关系密切的 UNC13B 在自闭症谱系障碍（ASD）、癫痫和精神分裂症中发挥作用。UNC13C 与口腔鳞状细胞癌（OSCC）和肝细胞癌（HCC）有关，在阿尔茨海默病（AD）中具有神经保护作用。UNC13D 在免疫细胞功能中起着至关重要的作用，因此是 FHL 的关键角色。这篇综述强调了每个 UNC13 家族成员独特的分子功能及其在疾病中的影响，揭示了潜在的治疗策略和未来的研究方向。了解这些蛋白质的作用将为神经和免疫疾病的管理和治疗提供新的视角。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

AIMS Neuroscience NEUROSCIENCES-

CiteScore

4.20

自引率

0.00%

发文量

审稿时长

8 weeks

期刊介绍： AIMS Neuroscience is an international Open Access journal devoted to publishing peer-reviewed, high quality, original papers from all areas in the field of neuroscience. The primary focus is to provide a forum in which to expedite the speed with which theoretical neuroscience progresses toward generating testable hypotheses. In the presence of current and developing technology that offers unprecedented access to functions of the nervous system at all levels, the journal is designed to serve the role of providing the widest variety of the best theoretical views leading to suggested studies. Single blind peer review is provided for all articles and commentaries.