Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome

ConclusionsPBA and VPA could reduce the ER stress and cell apoptosis caused by dominant WFS1 mutants.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research

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AbstractBackgroundWolfram syndrome (WFS) is a rare, monogenic neurodegenerative syndrome characterised by insulin requiring non-autoimmune diabetes mellitus (DM) and optic atrophy which are usually the earliest and commonest manifestations. However, there are other features which are under-recognized, adding to morbidity and premature mortality in these patients.MethodsFive patients (three males, two females) with genetically confirmed WFS at a single tertiary care centre were prospectively followed up. Their symptomatology, clinical profile, genetic analysis and radiology were analyzed. Multidisciplinary approach was used...
Source: Endocrine - Category: Endocrinology Source Type: research
Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestations including diabetes insipidus, diabetes mellitus, optic atrophy and deafness. WFS1 and CIS...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Wolfram syndrome is a rare genetic, progressive, neurodegenerative disorder characterised by childhood-onset diabetes mellitus, diabetes insipidus, optic atrophy and deafness. To date, the economic burden of W...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
The presence of diabetes and visual impairment in a young individual is a good diagnostic criterion to suspect Wolfram syndrome (WS) or Diabetes insipidus, Diabetes mellitus, optic atrophy and deafness.1,2 WS is a rare autosomal recessive disease due to mutations in the Wolframin (WFS1) gene. These mutations lead to endoplasmic reticulum stress-related decline of pancreatic beta-cell number and a decrease in endogenous insulin secretion. Affected individuals are therefore usually insulin-dependent, with a few rare exceptions reported.3 –5 Here we describe a 9-year-old boy who presented with visual impairment and diab...
Source: QJM - Category: Internal Medicine Source Type: research
CONCLUSIONS: Some patients with Wolfram syndrome have a mild retinal degeneration that may be a manifestation of the neuronal involvement that is present in this condition. PMID: 30507261 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Abstract The original version of this Article erroneously cropped part of the abstract. The abstract has now been corrected to read 'Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in death before the age of 50 years. The pathogenesis of WS1 is ascribed to mutations of human WFS1 gene on chromosome 4p encoding a transmembrane protein called wolframin, which has physiological functions in membrane trafficking, secretion, processing, and/or regulation of ER ca...
Source: Pediatric Research - Category: Pediatrics Authors: Tags: Pediatr Res Source Type: research
AbstractWolfram syndrome is a rare hereditary disease characterized by clinical congenital progressive hearing impairment, diabetes mellitus, optic atrophy, and diabetes insipidus. A girl at the age of 35  months with diabetes mellitus was diagnosed as incomplete Wolfram syndrome; the patient also had optic atrophy, deafness, and diabetes mellitus. Molecular genetic examinations revealed a de novo mutation (c.2425G>A) in theWFS1 gene. No mutations were detected in the biological parents. The mutation c.2425G>A in theWFS1 gene is associated with the occurrence of Wolfram syndrome. This newly discovered mutation i...
Source: International Journal of Diabetes in Developing Countries - Category: Endocrinology Source Type: research
ConclusionsThe early presence of a non-autoimmune insulin dependent DM, should alert us of an “infrequent” diabetes syndrome. Wolfram’s presumptive diagnosis could be established if juvenile-onset DM occurs concomitantly with OA, and this visual impairment is not attributable to diabetic retinopathy. Despite the long period of evolution of DM and altered values of HbA1c, the prevalence of microvascular complications in the sample are low.
Source: Endocrine - Category: Endocrinology Source Type: research
Authors: Catalano A, Bellone F, Cicala G, Giandalia A, Morabito N, Cucinotta D, Russo GT Abstract Wolfram Syndrome (WS) is a rare and lethal disease characterized by optic atrophy, diabetes mellitus, diabetes insipidus, and hearing loss. To date, osteoporotic related fractures have not been reported in affected patients. Here, we describe the case of a man affected by WS complicated by several bone fragility fractures. A 50-year-old Caucasian man was hospitalized because of tibia and fibula fractures. His clinical features included diabetes mellitus, diabetes insipidus, optic atrophy and deafness that were consiste...
Source: Clinical Cases in Mineral and Bone Metabolism - Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research
The DIDMOAD syndrome includes diabetes mellitus (DM) and optic atrophy (OA), variously associated with diabetes insipidus (DI), sensorineural deafness (D), dilatation of the urinary tract, and other minor abnormalities. Historically, the association of diabetes mellitus (DM) with optic atrophy (OA) was first described by Von Graeffe in 1858 as quoted by Fishman and Ehrlich [1]. Thereafter, in 1938, Wolfram [2] described a family of eight siblings, four of whom had DM and OA; three of the four affected siblings subsequently developed neurosensory hearing losses; and later, two developed neurogenic bladders. Since then, over...
Source: Annals of Saudi Medicine - Category: Journals (General) Tags: ISSUE 3 Source Type: research
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