A Curious Case of Repetitive Loss of Consciousness
A 23-year-old male diagnosed with Wolfram syndrome presented with several episodes of loss of consciousness…
Entries by The Snow Foundation
Wolfram Syndrome Overview
Wolfram syndrome is an inherited condition that is typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy.
Wolfram Syndrome as a Mitochondriopathy
The aim of the present review is to collect evidences showing that WS is indeed a mitochondriopathy…
Wolfram Syndrome and its Degenerative Factors and Treatments
Publication: undergradsciencejournals.okstate.edu | Publication Date: 2021 Authors: Olivia Tolbert Abstract 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 […]
Wolfram syndrome 1 in the Italian population: genotype–phenotype correlations
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 Abstract Objectives We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype–phenotype […]
WFS1 Mutation Frequency 60-fold Higher in Ashkenazi Jewish Individuals – Results in Wolfram Spectrum and Increased Risk for T2DM
Wolfram syndrome is a rare, autosomal recessive syndrome characterised by juvenile-onset diabetes and optic atrophy and is caused by bi-allelic mutations in the WFS1 gene.
Valproate to Increase WFS-1 Expression
Publication: journals.plos.org | Publication Date: January 6, 2009 Authors: Chihiro Kakiuchi,Shinsuke Ishigaki,Christine M. Oslowski,Sonya G. Fonseca,Tadafumi Kato & Fumihiko Urano Abstract Background Valproate is a standard treatment for bipolar disorder and a first-line mood stabilizer. The molecular mechanisms underlying its actions in bipolar disorder are unclear. It has been suggested that the action of valproate […]
Urinary Disorders Revealing a Wolfram Syndrome: A Case Report
Publication: endocrine-abstracts.org | Publication Date: September 09, 2020 Authors: Mouna Sghir, Soumaya Elarem, Wafa Said, Aymen Haj Salah, Baha Zantour & Wassia Kessomtini Background: Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus (non-autoimmune), Optic Atrophy, and Deafness.
Urano publishes research on the connection between loss of WFS1 function and ER stress-mediated inflammation
Publication: endocrinology.wustl.edu | Publication Date: June 10, 2022 Authors: Morikawa, S., Blacher, L., Onwumere, C., & Urano F. On March 25, Fumihiko Urano, MD, PhD and colleagues had their research titled “Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells,” published in “Frontiers in Endocrinology.”
The Race to Treat Rare, Fatal Syndrome May Help Others With Common Disorders Like Diabetes
Publication: science.org | Publication Date: February 11, 2021 Authors: Mitch Leslie A Revealing Flaw: A rare disease that cripples a key cellular organelle holds clues to treating more common conditions. Abstract Maureen Marshall-Doss says the first sign that her vision was deteriorating came when she misidentified the color of a dress. At a backyard get-together […]