Publication: biomedcentral.com | Publication Date: 06 March 2025
Authors: Jagomäe, T., Velling, S., Tikva, T.B. et al.
Wolfram syndrome (WS) is a rare autosomal disorder caused by WFS1 gene mutations, currently lacking approved treatments. Preclinical and clinical reports suggest that diabetes medications, such as glucagon-like peptide-1 receptor agonist (GLP1-RA), slow WS-related diabetes and neurodegeneration, improving patient outcomes.
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Publication: science.org | Publication Date: 2025
Authors: Kikuko Amo-Shiinoki et al.
Insulin-dependent diabetes in patients with Wolfram syndrome (WS; OMIM 222300) has been linked to endoplasmic reticulum (ER) stress caused by WFS1 gene mutations. However, the pathological process of ER stress–associated β cell failure remains to be fully elucidated. Our results indicate loss of β cell lineage and subsequent dedifferentiation as the mechanisms underlying functional and mass deficits in WS.
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Publication: ncbi.nlm.nih.gov | Publication Date: September 30, 2014
Authors: Zatyka, M., Da Silva Xavier, G., Bellomo, E. A., Leadbeater, W., Astuti, D., Smith, J., Michelangeli, F., Rutter, G. A., & Barrett, T. G.
Wolfram syndrome is an autosomal recessive disorder characterized by neurodegeneration and diabetes mellitus. The gene responsible for the syndrome (WFS1) encodes an endoplasmic reticulum (ER)-resident transmembrane protein that is involved in the regulation of the unfolded protein response (UPR), intracellular ion homeostasis, cyclic adenosine monophosphate production and regulation of insulin biosynthesis and secretion. Read more
Publication: jbc.org | Publication Date: December 2003
Authors: Abdullah A. Osman, Mitsuyoshi Saito, Carol Makepeace, M. Alan Permutt, Paul Schlesinger, Mike Mueckler
Wolfram syndrome is an autosomal recessive neuro-degenerative disorder associated with juvenile onset non-autoimmune diabetes mellitus and progressive optic atrophy. The disease has been attributed to mutations in the WFS1 gene, which codes for a protein predicted to possess 9–10 transmembrane segments. Little is known concerning the function of the WFS1 protein (wolframin). Read more
Publication: ncbi.nlm.nih.gov | Publication Date: 2016
Authors: Fumihiko Urano
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. Read more
Publication: cureus.com | Publication Date: October 3, 2023
Authors: Carvalho M M, Jesus R, Mendes A, et al.
Wolfram syndrome is a rare, multisystemic, progressive, and autosomal-recessive genetic disease, characterized by diabetes mellitus and diabetes insipidus, optic nerve atrophy, deafness, and other neurological signs. The diagnosis is usually based on history and clinical manifestations but genetic tests are necessary for confirmation. Read more
Publication: rarediseases.org | Publication Date: September 23, 2020
Authors: Hershey, T., Marshall, B., & May, J.
Wolfram syndrome is an inherited condition that is typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy. In addition, many people with Wolfram syndrome also develop diabetes insipidus and sensorineural hearing loss. Read more
Publication: nature.com | Publication Date: March 6, 2018
Authors: Benjamin Delprat, Tangui Maurice & Cécile Delettre
Wolfram syndrome (WS) is a rare neurodegenerative disease, the main pathological hallmarks of which associate with diabetes, optic atrophy, and deafness. Other symptoms may be identified in some but not all patients. Prognosis is poor, with death occurring around 35 years of age. Read more
Publication: undergradsciencejournals.okstate.edu | Publication Date: 2021
Authors: Olivia Tolbert
With advancements in treatments for Wolfram syndrome come new ways to possibly treat or further understand other degenerative diseases such as Alzheimer’s and Parkinson’s. There are multiple forms of treatments being devised, one path is to limit the frequency of cell death and halt further symptoms the other to prevent or replace the mutated cells. Read more
Publication: nature.com | Publication Date: July 2, 2019
Authors: Luciana Rigoli, Concetta Aloi, Alessandro Salina, Chiara Di Bella, Giuseppina Salzano, Rosario Caruso, Emanuela Mazzon, Mohamad Maghnie, Giuseppa Patti, Giuseppe D’Annunzio & Fortunato Lombardo
We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype–phenotype correlations. Read more
The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and developing novel therapies for diabetes, vision loss, hearing loss and neurodegeneration.
P.O. Box 50224 Clayton, MO 63105
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