Reversible Mitochondrial Iron Toxicity in Wolfram Syndrome Type 2 Monogenic Diabetes
J Clin Endocrinol Metab. 2026 Jun 24:dgag250. doi: 10.1210/clinem/dgag250. Online ahead of print. ABSTRACT CONTEXT: Wolfram syndrome type 2 (WS2) is a rare monogenic diabetes syndrome caused by CISD2 mutations. Its cellular pathophysiology remains poorly understood, and no targeted therapies exist. OBJECTIVE: To characterize the clinical phenotype and cellular pathophysiology of the largest WS2 cohort […]
Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP-1 receptor agonist therapy
Diabet Med. 2026 Jun 21:e70405. doi: 10.1111/dme.70405. Online ahead of print. ABSTRACT AIM: To describe the clinical characteristics of patients with Wolfram syndrome (WFS) and diabetes mellitus (DM) in Aotearoa, New Zealand. Review of response to therapy in those treated with glucagon-like peptide-1 receptor agonists (GLP1RA). METHODS: This retrospective cohort study describes 7 patients with […]
Targeting WFS1 overcomes KRASG12D dependency and adaptive resistance to KRAS inhibition in pancreatic cancer
NPJ Precis Oncol. 2026 Jun 15. doi: 10.1038/s41698-026-01553-4. Online ahead of print. ABSTRACT KRASG12D-driven pancreatic ductal adenocarcinoma (PDAC) remains a therapeutic challenge characterized by limited treatment options. While MRTX1133, a potent and selective KRASG12D inhibitor, is currently under clinical evaluation, the emergence of acquired resistance restricts its long-term therapeutic efficacy. In this study, we identified […]
Synaptic alterations are preceding the axonal loss in optic atrophy of Wolfram syndrome mouse model
Front Neurosci. 2026 May 22;20:1838257. doi: 10.3389/fnins.2026.1838257. eCollection 2026. ABSTRACT BACKGROUND: Wolfram syndrome is a rare autosomal recessive disorder characterized by antibody-negative early-onset diabetes mellitus, optic atrophy, sensorineural hearing loss, arginine-vasopressin deficiency, and progressive neurodegeneration of the brainstem and cerebellum. It is caused primarily by pathogenic variants in the WFS1 gene, which encodes a transmembrane […]
Molecular Characterization of Syndromic Hearing Loss in North African Moroccan Families
Biomolecules. 2026 Apr 22;16(5):619. doi: 10.3390/biom16050619. ABSTRACT Hearing loss (HL) is a common sensory disorder, with syndromic forms accounting for ~30% of genetic cases. Due to phenotypic and genetic heterogeneity, accurate diagnosis remains challenging. Exome sequencing (ES) offers a powerful tool to uncover the underlying genetic causes. This study aimed to investigate the genetic basis […]
Phase II trial of sodium phenylbutyrate and taurursodiol in Wolfram syndrome
J Clin Invest. 2026 May 15;136(10):e198519. doi: 10.1172/JCI198519. eCollection 2026 May 15. ABSTRACT PB&TURSO was associated with improved or stabilized pancreatic function, vision, and overall symptom burden in individuals with Wolfram syndrome, a rare and progressive degenerative disease. PMID:42138079 | DOI:10.1172/JCI198519
Expanding the phenotype of Wolfram syndrome: adult presentation with a novel WFS1 variant
JCEM Case Rep. 2026 May 5;4(6):luag066. doi: 10.1210/jcemcr/luag066. eCollection 2026 Jun. ABSTRACT Wolfram syndrome type 1 (WS1) is a rare autosomal recessive disorder involving diabetes mellitus, optic atrophy, and neurodegeneration, caused by biallelic WFS1 mutations. Though typically diagnosed in childhood, adult-onset cases may be missed due to variable symptom onset. We describe a 38-year-old woman […]
WFS1-related isolated diabetes induced by a WFS1 missense mutation: focus on the isolated diabetes phenotype
Orphanet J Rare Dis. 2026 Mar 27;21(1):180. doi: 10.1186/s13023-026-04291-9. ABSTRACT BACKGROUND: Wolfram syndrome is a rare disease caused by the mutation of WFS1 gene, characterized as s spectrum of disorders. We aim to investigate the clinical features and pathogenic mechanisms of a WFS1 missense mutation inducing atypical phenotype characterized solely by isolated diabetes mellitus (DM). […]
Pregnancy and Peripartum Multidisciplinary Management in Wolfram Syndrome Type 1: A Case Report
Diagnostics (Basel). 2026 Apr 8;16(8):1117. doi: 10.3390/diagnostics16081117. ABSTRACT Background/Objectives: Wolfram syndrome type 1 (WS1) is a rare, progressive, multisystem neurodegenerative disorder characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. As survival has improved, an increasing number of affected women are reaching reproductive age. However, evidence on pregnancy and peripartum management in […]
Omics in hereditary optic neuropathies:A systematic review of clinical studies with an integrated point of view
Surv Ophthalmol. 2026 Apr 28:S0039-6257(26)00059-7. doi: 10.1016/j.survophthal.2026.04.006. Online ahead of print. ABSTRACT Hereditary optic neuropathies are characterized by bilateral visual loss due to the degeneration of retinal ganglion cells, resulting in optic nerve degeneration and atrophy. Although the genetic origin of the main isolated and syndromic hereditary optic neuropathies have been characterized, the clinical phenotypes […]