GLP-1R agonists demonstrate potential to treat Wolfram syndrome in human preclinical models
Diabetologia. 2023 Mar 30. doi: 10.1007/s00125-023-05905-8. Online ahead of print. ABSTRACT AIMS/HYPOTHESIS: Wolfram syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the WFS1 gene. It is characterised by insulin-dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, hearing loss and neurodegeneration. Considering the unmet treatment need for this orphan disease, this study […]
Evaluation of the Oral Bacterial Genome and Metabolites in Patients with Wolfram Syndrome
Int J Mol Sci. 2023 Mar 15;24(6):5596. doi: 10.3390/ijms24065596. ABSTRACT In Wolfram syndrome (WFS), due to the loss of wolframin function, there is increased ER stress and, as a result, progressive neurodegenerative disorders, accompanied by insulin-dependent diabetes. The aim of the study was to evaluate the oral microbiome and metabolome in WFS patients compared with […]
Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant
Stem Cell Res. 2023 Mar 16;69:103068. doi: 10.1016/j.scr.2023.103068. Online ahead of print. ABSTRACT Pathogenic variants of the WFS1 gene can cause recessive-inherited Wolfram syndrome or dominant-inherited Wolfram-like syndrome with optic atrophy and hearing impairment. Using the Sendai virus delivery system, we generated induced pluripotent stem cells from the peripheral blood mononuclear cells of a female […]
Treatment of autoimmunity: The impact of disease-modifying therapies in multiple sclerosis and comorbid autoimmune disorders
Autoimmun Rev. 2023 Mar 14:103312. doi: 10.1016/j.autrev.2023.103312. Online ahead of print. ABSTRACT More than 10 disease-modifying therapies (DMT) are approved by the European Medicines Agency (EMA) and the US Food and Drug Administration (FDA) for the treatment of multiple sclerosis (MS) and new therapeutic options are on the horizon. Due to different underlying therapeutic mechanisms, […]
WFS1 Spectrum Disorder
2009 Feb 24 [updated 2022 Dec 1]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. ABSTRACT CLINICAL CHARACTERISTICS: WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive […]
Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome
Front Neurosci. 2022 Apr 12;16:795317. doi: 10.3389/fnins.2022.795317. eCollection 2022. ABSTRACT Wolfram syndrome is a rare disease caused by pathogenic variants in the WFS1 gene with progressive neurodegeneration. As an easily accessible biomarker of progression of neurodegeneration has not yet been found, accurate tracking of the neurodegenerative process over time requires assessment by costly and time-consuming […]
Neuro-ophthalmological manifestations of Wolfram syndrome: Case series and review of the literature
J Neurol Sci. 2022 Jun 15;437:120267. doi: 10.1016/j.jns.2022.120267. Epub 2022 Apr 20. ABSTRACT Wolfram Syndrome (WS) is a rare progressive hereditary neurodegenerative disease with hallmark features of diabetes mellitus, optic atrophy, and hearing loss. Its other clinical manifestations may include diabetes insipidus, urological, neurological, and psychiatric abnormalities. We review systemic and ocular manifestations of WS […]
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies
Am J Ophthalmol. 2022 Sep;241:206-216. doi: 10.1016/j.ajo.2022.03.019. Epub 2022 Apr 20. ABSTRACT PURPOSE: To describe the clinical phenotype of a cohort of patients with Wolfram syndrome (WS), focusing on the pattern of optic atrophy correlated with brain magnetic resonance imaging (MRI) measurements, as compared with patients with OPA1-related dominant optic atrophy (DOA). DESIGN: Retrospective, comparative […]
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome
Ophthalmic Genet. 2022 Aug;43(4):567-572. doi: 10.1080/13816810.2022.2068038. Epub 2022 Apr 21. ABSTRACT BACKGROUND: In contrast to the classic autosomal recessive Wolfram syndrome, Wolfram-like syndrome (WLS) is an autosomal dominant disease caused by heterozygous variants in the WFS1 gene. Here, we present deep phenotyping of a mother and son with a WFS1 variant NM_006005.3:c.2508 G > T, […]
Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells
Front Endocrinol (Lausanne). 2022 Mar 25;13:849204. doi: 10.3389/fendo.2022.849204. eCollection 2022. ABSTRACT Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and progressive neurodegeneration. Pathogenic variants in the WFS1 gene are the main causes of Wolfram syndrome. WFS1 encodes a transmembrane protein localized to the endoplasmic […]