Category: Wolfram syndrome

Dual role of neuroplastin in pancreatic β cells: Regulating insulin secretion and promoting islet inflammation

Proc Natl Acad Sci U S A. 2024 Aug 13;121(33):e2411234121. doi: 10.1073/pnas.2411234121. Epub 2024 Aug 6. ABSTRACT Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-resident secretory protein that reduces inflammation and promotes proliferation in pancreatic β cells. Numerous studies have highlighted the potential of MANF as a therapeutic agent for diabetes mellitus (DM), […]

Early trigeminal and sensory impairment and lysosomal dysfunction in accurate models of Wolfram syndrome

Exp Neurol. 2024 Dec 9:115099. doi: 10.1016/j.expneurol.2024.115099. Online ahead of print. ABSTRACT Wolfram syndrome (WS) is a rare condition caused by homozygous or compound heterozygous mutations in the WFS1 gene primarily. It is diagnosed on the basis of early-onset diabetes mellitus and optic nerve atrophy. Patients complain of trigeminal-like migraines and show deficits in vibration […]

Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings

Ann Indian Acad Neurol. 2024 Dec 4. doi: 10.4103/aian.aian_613_24. Online ahead of print. ABSTRACT Wolfram syndrome (WS), a rare genetic neurodegenerative condition, is primarily characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss, along with diverse systemic manifestations. Late-stage cases exhibit widespread brain atrophy. While bleeding tendencies are not commonly observed in […]

A NOVEL DE NOVO LIKELY PATHOGENIC VARIANT OF WFS-1 GENE IN A PAKISTANI CHILD WITH NON-CLASSIC WFS-1 SPECTRUM DISORDER

J Ayub Med Coll Abbottabad. 2024 Apr-Jun;36(2):433-435. doi: 10.55519/JAMC-02-12379. ABSTRACT ABSTRACT: Wolfram syndrome is a progressive neurodegenerative disorder caused by an alteration in the WFS-1 gene, located on chromosome 4p16.1 and is characterized by the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). WFS-1 gene encodes for a transmembrane protein termed Wolframin found […]

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 […]

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 […]