Category: Wolfram syndrome

beta cell dedifferentiation, the underlying mechanism of diabetes in Wolfram syndrome

Sci Transl Med. 2025 Feb 19;17(786):eadp2332. doi: 10.1126/scitranslmed.adp2332. Epub 2025 Feb 19. ABSTRACT Insulin-dependent diabetes in patients with Wolfram syndrome (WS; OMIM 222300) has been linked to endoplasmic reticulum (ER) stress caused by WFS1 gene mutations. However, the pathological process of ER stress-associated β cell failure remains to be fully elucidated. Our results indicate loss […]

Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population

Front Pediatr. 2025 Jan 29;13:1525846. doi: 10.3389/fped.2025.1525846. eCollection 2025. ABSTRACT CONTEXT: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder caused by pathogenic variants in the WFS1 gene. It is characterized by central diabetes insipidus, juvenile-onset diabetes mellitus (DM), optic atrophy (OA), and deafness. The natural history of WS is variable, even within the same […]

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes

Int J Mol Sci. 2025 Jan 23;26(3):957. doi: 10.3390/ijms26030957. ABSTRACT Visual electrophysiology is a valuable tool for evaluating the visual system in various systemic syndromes. This review highlights its clinical application in a selection of syndromes associated with hearing loss, mitochondrial dysfunction, obesity, and other multisystem disorders. Techniques such as full-field electroretinography (ffERG), multifocal electroretinography […]

Do wolframin, P-glycoprotein, and GRP78/BiP cooperate to alter the response of L1210 cells to endoplasmic reticulum stress or drug sensitivity?

Cancer Cell Int. 2025 Feb 7;25(1):35. doi: 10.1186/s12935-025-03661-w. ABSTRACT In previous research, we revealed that murine leukemia cells L1210 with induced expression of P-glycoprotein (P-gp, a membrane drug transporter, product of the Abcb1 gene) are better able to withstand endoplasmic reticulum (ER) stress (ERS) than their P-gp negative counterparts. This was associated with increased GRP78/BiP […]

Prevalence and mechanisms of subacromial impingement in breast cancer patients after breast-conserving surgery and radiation therapy: a case-cohort study

Breast Cancer Res Treat. 2025 Feb;209(3):553-561. doi: 10.1007/s10549-024-07514-4. Epub 2024 Oct 21. ABSTRACT PURPOSE: Subacromial impingement is a painful shoulder disorder, which may be common after breast cancer treatment. A previous study showed a high prevalence after mastectomy but prevalence after conservatively treated patients is unknown. Impingement mechanisms in breast cancer survivors have not been […]

The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype

Genes (Basel). 2025 Jan 6;16(1):57. doi: 10.3390/genes16010057. ABSTRACT BACKGROUND/OBJECTIVES: A heterozygous mutation in the WFS1 gene is responsible for autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like syndrome, which is characterized by bilateral sensorineural hearing loss with optic atrophy and/or diabetes mellitus. However, detailed clinical features for the patients with the heterozygous p.A684V variant remain […]

A Rare Case of Wolfram Syndrome Presenting With Tuberculous Meningitis: A Case Report

Clin Case Rep. 2025 Jan 16;13(1):e70116. doi: 10.1002/ccr3.70116. eCollection 2025 Jan. ABSTRACT Wolfram syndrome is an extremely rare condition composed of a tetrad of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. When concurrently presenting with another condition, such as tuberculous meningitis, the widespread range of resulting symptoms delays the establishment of diagnosis and treatment, […]

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations

Genes (Basel). 2024 Dec 12;15(12):1592. doi: 10.3390/genes15121592. ABSTRACT Background:WFS1-spectrum disorders are caused by a mutation in the WFS1 gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the WFS1 gene, such as Wolfram-like syndrome, […]

Cochlear implant in Wolfram syndrome: A case report

Cochlear Implants Int. 2024 Dec 23:1-5. doi: 10.1080/14670100.2024.2442826. Online ahead of print. ABSTRACT INTRODUCTION: Wolfram syndrome, a rare autosomal recessive disorder, is characterised by diabetes insipidus, juvenile diabetes mellitus, optic nerve atrophy and deafness (DIDMOAD). CASE REPORT: We present a case of a 21-year-old male diagnosed with Wolfram syndrome who underwent cochlear implantation due to […]