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 […]
A case of a young patient with progressive vision loss: An atypical presentation of the rare Wolfram Syndrome in a Middle Eastern individual
Am J Ophthalmol Case Rep. 2025 May 16;39:102354. doi: 10.1016/j.ajoc.2025.102354. eCollection 2025 Sep. ABSTRACT PURPOSE: To describe an atypical presentation of a rare disease in a young middle eastern woman with a relatively adult-onset type 1 diabetes mellitus, bilateral optic atrophy and progressive decreased vision diagnosed as the Wolfram disease. OBSERVATION: A 38-year-old female patient […]
A Hidden Diagnosis: Neurogenic Bladder Leading to Acute Kidney Failure in Wolfram Syndrome
Cureus. 2025 May 6;17(5):e83594. doi: 10.7759/cureus.83594. eCollection 2025 May. ABSTRACT Wolfram syndrome (WS) is a rare, autosomal recessive neurodegenerative disorder characterized by progressive multisystemic involvement, including diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural hearing loss, and urological dysfunction. While diabetes mellitus is typically the first clinical sign, atypical presentations can delay the diagnosis. We report […]
Profile of monogenic diabetes: a Pan-India study
Diabetes Res Clin Pract. 2025 Jun 2:112289. doi: 10.1016/j.diabres.2025.112289. Online ahead of print. ABSTRACT AIM: To evaluate the frequency of monogenic diabetes among individuals clinically suspected to have monogenic diabetes in India. METHODS: Participants (n = 774) were recruited from 65 diabetes centres across India (http://monogenicdiabetes.in/Collaborators.html). Inclusion criteria were: age at diagnosis of diabetes ≤30 […]
Impaired Compensatory Vasodilatory Effect Mediated by Wolfram Syndrome 1 and Corticotropin-Releasing Hormone Family Peptides in 17alpha-Ethynylestradiol-Induced Intrahepatic Cholestasis Pregnant Rats When Under Additional Acute Hypoxia Stress
Matern Fetal Med. 2021 Dec 15;4(1):7-16. doi: 10.1097/FM9.0000000000000137. eCollection 2022 Jan. ABSTRACT OBJECTIVE: To investigate the possible regulatory mechanism of corticotropin-releasing hormone (CRH), urocortin (UCN), and Wolfram syndrome 1 (WFS1) in 17α-ethynylestradiol (EE)-induced intrahepatic cholestasis pregnant rats and its ischemia reperfusion (IR) model. METHODS: Pregnant rats (n = 60) were randomly divided into four experimental […]
Proteomic profiling of pseudorabies virus-infected PK-15 cells based on 4D label free analysis
Vet Res Forum. 2025;16(3):141-147. doi: 10.30466/vrf.2024.2026963.4239. Epub 2025 Mar 15. ABSTRACT Pseudorabies virus (PRV) heavily depends on host machinery to support its life cycle. Investigating the interaction between PRV and host could aid in the understandings of viral pathogenesis. In this study, we performed a 4D label free proteomic method to examine the differentially expressed […]