WFS1 gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report
World J Diabetes. 2025 Aug 15;16(8):108946. doi: 10.4239/wjd.v16.i8.108946. ABSTRACT BACKGROUND: Wolfram syndrome is a rare autosomal recessive genetic disorder characterized by early-onset diabetes and progressive neurodegeneration, most notably sensorineural hearing loss and optic atrophy. Because its initial manifestations are usually similar to those of type 1 diabetes, the diagnosis may be delayed until other manifestations […]
Localization and connections of the tail of caudate and caudal putamen in mouse brain
Front Neural Circuits. 2025 Aug 4;19:1611199. doi: 10.3389/fncir.2025.1611199. eCollection 2025. ABSTRACT The neural circuits of the striatum (caudate and putamen) constitute a crucial component of the extrapyramidal motor system, and dysfunction in these circuits is correlated with significant neurological disorders including Parkinson’s disease and Huntington’s disease. Many previous studies in rodents revealed the neural connections […]
Topology of WFS1 Variants Linked With Islet Function and Higher Risk of Urological Symptoms in WFS1-Associated Disease
Pediatr Diabetes. 2025 Jul 31;2025:9955995. doi: 10.1155/pedi/9955995. eCollection 2025. ABSTRACT Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane (TM) structural protein (wolframin), is essential for several biological processes. Mutations of WFS1, autosomal dominant or recessive inherited, are related to a broad clinical spectrum. Molecular genetic tests were performed, and clinical phenotypes of three […]
WFS1 Gene Mutation (c.2389G > A) Induces Immune Disorders by Promoting DC Maturation through Inhibition of TMEM176A
Inflammation. 2025 Aug 6. doi: 10.1007/s10753-025-02325-1. Online ahead of print. ABSTRACT Mutations in the WFS1 gene, encoding wolframin (WFS1), are known to cause endoplasmic reticulum (ER) stress and lead to Wolfram Syndrome (WS). However, the role of WFS1 in immune inflammation remains unexplored. In this study, we identified that the WFS1 gene mutation (c.2389G > […]
Long-term follow-up of pancreatic islet transplantation in a patient with Wolfram syndrome: a case report
Acta Diabetol. 2025 Jul 30. doi: 10.1007/s00592-025-02558-4. Online ahead of print. NO ABSTRACT PMID:40736545 | DOI:10.1007/s00592-025-02558-4
Gonadal Dysfunction in Wolfram Syndrome: A Prospective Study
Diagnostics (Basel). 2025 Jun 24;15(13):1594. doi: 10.3390/diagnostics15131594. ABSTRACT Background: Wolfram syndrome (WFS), also known as DIDMOAD, is a rare monogenic neurodegenerative disorder characterized by four key components: non-autoimmune insulin-dependent diabetes mellitus (DM), optic atrophy, sensorineural hearing loss, and diabetes insipidus. Although it significantly affects quality of life, gonadal dysfunction, particularly hypogonadism, remains underrecognized. Methods: In […]
Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees
J Diabetes. 2025 Jul;17(7):e70114. doi: 10.1111/1753-0407.70114. ABSTRACT BACKGROUND: Mutations in the WFS1 gene are implicated in Wolfram syndrome (WS), Wolfram-like syndrome (WFLS), and maturity-onset diabetes of the young (MODY). Wolfram syndrome 1 (WFS1) is a diabetes-related gene encoding wolframin, a glycoprotein with nine transmembrane domains localized in the endoplasmic reticulum. However, the relationship between WFS1 […]
The Labile Side of Iron in Health and Disease: A Narrative Review
Adv Exp Med Biol. 2025;1480:47-60. doi: 10.1007/978-3-031-92033-2_4. ABSTRACT Labile iron is an exchangeable and redox-active form of Fe2+/Fe3+ that is identified in cells under normal or pathological conditions, particularly with the aid of an increasing number of metal-sensitive probes, especially those carrying fluorescent-based sensors, some targetable to specific cell organelles, some useful for real-time measurements. […]
Brainstem and optic pathway involvement in wolfram syndrome
Neurol Sci. 2025 Jun 27. doi: 10.1007/s10072-025-08239-y. Online ahead of print. NO ABSTRACT PMID:40576837 | DOI:10.1007/s10072-025-08239-y
The significance of ophthalmological evaluation in the correct diagnosis of pediatric insulin-dependent diabetes mellitus: lessons from novel WFS1 variants
Diabetes Metab. 2025 Jun 15:101676. doi: 10.1016/j.diabet.2025.101676. Online ahead of print. ABSTRACT Wolfram syndrome 1 is an autosomal recessive disorder often commencing as insulin dependent diabetes, but with inherent progressive ultimately fatal neurodegeneration. We report two pediatric cases, referred as unregulated insulin dependent diabetes mellitus, initially misdiagnosed as type 1 diabetes, in whom whole exome […]