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Function of WFS1 and WFS2 in the Central Nervous System: Implications for Wolfram Syndrome and Alzheimer's Disease.
Neuroscience & Biobehavioral Reviews ( IF 7.5 ) Pub Date : 2020-09-17 , DOI: 10.1016/j.neubiorev.2020.09.011
Liangping Li 1 , Lalitha Venkataraman 1 , Shuo Chen 1 , Hongjun Fu 1
Affiliation  

L.P. Li, L. Venkataraman, S. Chen, and H.J. Fu. Function of WFS1 and WFS2 in the Central Nervous System: Implications for Wolfram Syndrome and Alzheimer’s Disease. NEUROSCI BIOBEHAV REVXXX-XXX,2020.-Wolfram syndrome (WS) is a rare monogenetic spectrum disorder characterized by insulin-dependent juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, progressive neurodegeneration, and a wide spectrum of psychiatric manifestations. Most WS patients belong to Wolfram Syndrome type 1 (WS1) caused by mutations in the Wolfram Syndrome 1 (WFS1/Wolframin) gene, while a small fraction of patients belongs to Wolfram Syndrome type 2 (WS2) caused by pathogenic variants in the CDGSH Iron Sulfur Domain 2 (CISD2/WFS2) gene. Although currently there is no treatment for this life-threatening disease, the molecular mechanisms underlying the pathogenesis of WS have been proposed. Interestingly, Alzheimer’s disease (AD), an age-dependent neurodegenerative disease, shares some common mechanisms with WS. In this review, we focus on the function of WFS1 and WFS2 in the central nervous system as well as their implications in WS and AD. We also propose three future directions for elucidating the role of WFS1 and WFS2 in WS and AD.



中文翻译:

WFS1 和 WFS2 在中枢神经系统中的功能:对 Wolfram 综合征和阿尔茨海默病的影响。

LP Li、L. Venkataraman、S. Chen 和 HJ Fu。WFS1 和 WFS2 在中枢神经系统中的功能:对 Wolfram 综合征和阿尔茨海默病的影响。NEUROSCI BIOBEHAV REVXXX-XXX,2020.-Wolfram 综合征 (WS) 是一种罕见的单基因谱系疾病,其特征是青少年型胰岛素依赖型糖尿病、尿崩症、视神经萎缩、听力损失、进行性神经变性和广泛的精神疾病表现。大多数 WS 患者属于 Wolfram Syndrome 1 (WS1) 由 Wolfram Syndrome 1 ( WFS1 / Wolframin ) 基因突变引起,而一小部分患者属于由 CDGSH Iron 致病变异引起的 Wolfram Syndrome type 2 (WS2)硫域 2 ( CISD2 / WFS2) 基因。尽管目前还没有针对这种威胁生命的疾病的治疗方法,但已经提出了 WS 发病机制的分子机制。有趣的是,阿尔茨海默病 (AD) 是一种年龄依赖性神经退行性疾病,与 WS 有一些共同的机制。在这篇综述中,我们关注 WFS1 和 WFS2 在中枢神经系统中的功能以及它们在 WS 和 AD 中的意义。我们还提出了三个未来方向,以阐明 WFS1 和 WFS2 在 WS 和 AD 中的作用。

更新日期:2020-09-30
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