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 about 20 years ago, the Indianapolis resident pointed out an attractive yellow dress another woman was wearing. “You see that as yellow? She’s wearing a pink dress,” Marshall-Doss recalls her husband responding. Read more

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The impact of the unfolded protein response on human disease

Publication: rupress.org | Publication Date: June 25, 2012

Authors: Shiyu Wang, Randal J. Kaufman

A central function of the endoplasmic reticulum (ER) is to coordinate protein biosynthetic and secretory activities in the cell. Alterations in ER homeostasis cause accumulation of misfolded/unfolded proteins in the ER. Read more

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Role of Endoplasmic Reticulum Stress in Metabolic Disease and Other Disorders

Publication: ncbi.nlm.nih.gov | Publication Date: July 1, 2012

Authors: Lale Ozcan and Ira Tabas

Abstract

Perturbations in the normal functions of the endoplasmic reticulum (ER) trigger a signaling network that coordinates adaptive and apoptotic responses. There is accumulating evidence implicating prolonged ER stress in the development and progression of many diseases, including neurodegeneration, atherosclerosis, type 2 diabetes, liver disease, and cancer. Read more

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Psychiatric Diagnoses and Medications in Wolfram Syndrome

Publication: sciendo.com | Publication Date: December 31, 2022

Authors: Angela M. Reiersen, Jacob S. Noel, Tasha Doty, Richa A. Sinkre, Anagha Narayanan and Tamara Hershey

Background

Wolfram Syndrome is a rare genetic disorder usually resulting from pathogenic variation in the WFS1 gene, which leads to an exaggerated endoplasmic reticulum (ER) stress response. The disorder is typically characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy, hearing loss, and neurodegenerative features. Existing literature suggests it may also have psychiatric manifestations.
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Preventive Treatment with Liraglutide

Publication: nature.com | Publication Date: July 05, 2018

Authors: Maarja Toots, Kadri Seppa, Toomas Jagomäe, Tuuliki Koppel, Maia Pallase, Indrek Heinla, Anton Terasmaa, Mario Plaas & Eero Vasar

Abstract

Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in the WFS1 (Wolframin1) gene. The syndrome first manifests as diabetes mellitus, followed by optic nerve atrophy, deafness, and neurodegeneration. Read more

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Multiple Retinal Anomalies in Wfs1-Deficient Mice

Publication: mdpi.com | Publication Date: August 12, 2020

Authors: Waszczykowska A, Zmysłowska A, Braun M, Ivask M, Koks S, Jurowski P, Młynarski W.

Abstract

Background: Wolfram syndrome (WFS, OMIM: #222300) is an ultrarare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness. It has been reported that the average retinal thickness in WFS patients decreases with the progression of the disease. Read more

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Misfolded proteins, endoplasmic reticulum stress and neurodegeneration

Publication: ncbi.nlm.nih.gov | Publication Date: March 31, 2014

Authors: Rammohan V Rao and Dale E Bredesen

Abstract

The accumulation of misfolded proteins (e.g. mutant or damaged proteins) triggers cellular stress responses that protect cells against the toxic buildup of such proteins. Read more

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Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin

Publication: neurology.org | Publication Date: March 19, 2021

Authors: Adi Wilf-Yarkoni, MD, MSc, Oded Shor, PhD, Avi Fellner, MD, Mark Andrew Hellmann, MD, Elon Pras, MD, Hagit Yonath, MD, Shiri Shkedi-Rafid, PhD, Lina Basel-Salmon, MD, PhD, Lili Bazak, PhD, Ruth Eliahou, MD, Lior Greenbaum, MD, PhD, Hadas Stiebel-Kalish, MD, Felix Benninger, MD and Yael Goldberg, MD

Abstract

Objective

To describe the WFS1 c.1672C>T; p.R558C missense variant, found in 1.34% of Ashkenazi Jews, that has a relatively mild phenotype and to use computational normal mode analysis (NMA) to explain the genotype-phenotype relationship. Read more

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Longitudinal Progression of Diabetes Mellitus in Wolfram Syndrome

Publication: diabetesjournals.org | Publication Date: June 1, 2020

Authors: Mary Katherine Ray, Tamara Hershey; Ling Chen, Neil H. White, Bess A. Marshall

Wolfram Syndrome (WFS) is a rare, genetic, neurodegenerative disorder with associated features of diabetes mellitus (DM), diabetes insipidus, deafness, and optic atrophy. In order to design intervention studies, concrete markers of disease progression are required. Read more

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Longitudinal Assessment of Neuroradiologic Features in Wolfram Syndrome

Publication: ajnr.org | Publication Date: October 29, 2020

Authors: A. Samara, H.M. Lugar, T. Hershey and J.S. Shimony

Abstract

Background and purpose: Wolfram syndrome is a rare genetic disease with characteristic brain involvement. We reviewed the brain MR images of patients with Wolfram syndrome to determine the frequency and characteristics of common neuroradiologic findings. Read more

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