Preprint Review Version 1 This version is not peer-reviewed

Beyond Wolfram Syndrome 1: The WFS1 Gene’s Role in Alzheimer’s Disease and Psychiatric Sleep Disorders

Version 1 : Received: 30 September 2024 / Approved: 30 September 2024 / Online: 30 September 2024 (11:22:02 CEST)

How to cite: Caruso, V.; Rigoli, L. Beyond Wolfram Syndrome 1: The WFS1 Gene’s Role in Alzheimer’s Disease and Psychiatric Sleep Disorders. Preprints 2024, 2024092402. https://doi.org/10.20944/preprints202409.2402.v1 Caruso, V.; Rigoli, L. Beyond Wolfram Syndrome 1: The WFS1 Gene’s Role in Alzheimer’s Disease and Psychiatric Sleep Disorders. Preprints 2024, 2024092402. https://doi.org/10.20944/preprints202409.2402.v1

Abstract

The WFS1 gene was first identified in Wolfram Syndrome 1 (WS1), a rare autosomal recessive genetic disorder characterized by severe and progressive neurodegenerative changes. WFS1's role in various cellular mechanisms, particularly in calcium homeostasis and the modulation of endoplasmic reticulum (ER) stress, suggests its potential involvement in the pathogenesis of Alzheimer's disease (AD) and psychiatric sleep disorders. Because it is involved in maintaining ER balance, calcium signaling, and stress responses, WFS1 plays a multifaceted role in neuronal health. Numerous studies have shown that the absence or improper expression of WFS1 disrupts these cellular processes, leading to neurodegeneration and making neurons more vulnerable. In AD, WFS1 dysfunction is thought to contribute to the accumulation of amyloid-β (Aβ) plaques and tau tangles, thereby accelerating disease progression. Additionally, WFS1 plays an essential role in sleep regulation by influencing neuronal excitability and neurotransmitter release, which may explain the sleep disturbances frequently observed in neurodegenerative diseases. Due to its involvement in the pathological mechanisms of AD and sleep disorders, WFS1 is regarded as a potential early diagnostic marker for these diseases. Further research is required to fully elucidate WFS1’s role in the cellular pathway, perhaps facilitating the development of new therapeutic strategies for Alzheimer's disease and psychiatric sleep disorders.

Keywords

WFS1 gene; Wolfram syndrome 1; Alzheimer Diseases; neuropsychiatric disorders

Subject

Medicine and Pharmacology, Neuroscience and Neurology

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