Beyond Wolfram Syndrome 1: The WFS1 Gene’s Role in Alzheimer’s Disease and Sleep Disorders
Biomolecules. 2024 Oct 31;14(11):1389. doi: 10.3390/biom14111389. 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 […]
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant
Ophthalmic Genet. 2024 Nov 18:1-8. doi: 10.1080/13816810.2024.2426561. Online ahead of print. ABSTRACT INTRODUCTION: Wolfram syndrome due to bi-allelic variants in WFS1 and mono-allelic Wolfram-like syndrome have variable ocular and syndromic associations. In this report, eight patients are described. METHODS: A retrospective observational case series with detailed ophthalmic and systemic phenotyping, optical coherence tomography (OCT), and […]
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome
Diabetologia. 2024 Nov 9. doi: 10.1007/s00125-024-06307-0. Online ahead of print. ABSTRACT AIMS/HYPOTHESIS: Wolfram syndrome 1 (WS1) is an inherited condition mainly manifesting in childhood-onset diabetes mellitus and progressive optic nerve atrophy. The causative gene, WFS1, encodes wolframin, a master regulator of several cellular responses, and the gene’s mutations associate with clinical variability. Indeed, nonsense/frameshift variants […]
Defects of WFS1-mediated peptide hormones secretion contribute to the manifestations of Wolfram syndrome
Life Sci. 2024 Nov 5:123219. doi: 10.1016/j.lfs.2024.123219. Online ahead of print. ABSTRACT AIMS: The study aims to investigate whether WFS1 is involved in the regulation of the exportation and secretion of other peptide hormones, as well as to elucidate the precise molecular mechanisms underlying WS caused by pathogenic mutations in the WFS1 gene. MATERIALS AND […]
SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome
J Endocrinol Invest. 2024 Nov 11. doi: 10.1007/s40618-024-02495-z. Online ahead of print. ABSTRACT Wolfram Syndrome (WFS) is a rare, multisystemic, degenerative disease leading to premature death. Clinical and genetic heterogeneity makes WFS diagnosis and management challenging. The Italian Society of Diabetes (SID) and the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP) convened an expert […]
Tale of mitochondria and mitochondria-associated ER membrane in patient-derived neuronal models of Wolfram syndrome
Neural Regen Res. 2025 Sep 1;20(9):2587-2588. doi: 10.4103/NRR.NRR-D-23-02021. Epub 2024 Apr 16. NO ABSTRACT PMID:39503425 | DOI:10.4103/NRR.NRR-D-23-02021
Myocardial infarction augments sleep to limit cardiac inflammation and damage
Nature. 2024 Oct 30. doi: 10.1038/s41586-024-08100-w. Online ahead of print. ABSTRACT Sleep is integral to cardiovascular health1,2. Yet, the circuits that connect cardiovascular pathology and sleep are incompletely understood. It remains unclear whether cardiac injury influences sleep and whether sleep-mediated neural outputs contribute to heart healing and inflammation. Here we report that in humans and […]
A novel (-)-(2S)-7,4′-dihydroxyflavanone compound for treating age-related diabetes mellitus through immunoinformatics-guided activation of CISD3
Biogerontology. 2024 Oct 29;26(1):5. doi: 10.1007/s10522-024-10147-1. ABSTRACT The iron-sulfur domain (CISD) proteins of CDGSH are classified into three classes: CISD1, CISD2, and CISD3. During premature ageing, mutations that affect these proteins, namely their binding sites, could result in reduced protein production and an inability to preserve cellular integrity. Consequently, this leads to the development of […]
Good cochlear implantation outcomes in subjects with mono-allelic WFS1-associated sensorineural hearing loss – a case series
Int J Audiol. 2024 Oct 18:1-9. doi: 10.1080/14992027.2024.2411579. Online ahead of print. ABSTRACT OBJECTIVE: This study aimed to evaluate long-term cochlear implant (CI) outcomes in individuals with mono-allelic pathogenic variants in WFS1, which is associated with both Wolfram-like syndrome and DFNA6/14/38. DESIGN: Retrospective case series. STUDY SAMPLE: Seven CI recipients, ranging from eight months to […]
Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center
Arch Endocrinol Metab. 2024 Sep 24;68:e240091. doi: 10.20945/2359-4292-2024-0091. eCollection 2024. ABSTRACT OBJECTIVE: Considering the rarity and clinical and molecular diversity of Wolfram syndrome (WS), the objective of this study was to identify patients with a clinical presentation suggestive of WS following up at a single Brazilian diabetes service and analyze their clinical and molecular characteristics. […]