Wolfram syndrome: from definition to molecular bases

Wolfram syndrome (WS) is an autosomal recessive progressive neurodegenerative disorder characterized by diabetes mellitus and optic atrophy. Diabetes insipidus and sensorineural deafness are also noted frequently, explaining the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy a...

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Bibliographic Details
Published in:Arquivos brasileiros de endocrinologia e metabologia 2006-10, Vol.50 (5), p.839-844
Main Authors: Ribeiro, Maria Regina F, Crispim, Felipe, Vendramini, Márcio F, Moisés, Regina S
Format: Article
Language:Portuguese
Subjects:
Humans
Membrane Proteins - genetics
Membrane Proteins - physiology
Mutation
Time Factors
Wolfram Syndrome - genetics
Wolfram Syndrome - pathology
Wolfram Syndrome - physiopathology
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Summary:Wolfram syndrome (WS) is an autosomal recessive progressive neurodegenerative disorder characterized by diabetes mellitus and optic atrophy. Diabetes insipidus and sensorineural deafness are also noted frequently, explaining the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) by which the syndrome is also referred. Additional manifestations such as atonic bladder, ataxia, nystagmus and predisposition for psychiatric illness may be present. The Wolfram syndrome gene, WFS1, was mapped to chromosome 4p16.1 by positional cloning. It encodes an 890-amino-acid polypeptide named wolframin. Although the wolframin function is still not completely known, its localization to the endoplasmic reticulum suggests it can play a role in calcium homeostasis, membrane trafficking and protein processing. Knowing the cellular function of wolframin is necessary for understanding the pathophysiology of Wolfram syndrome. This knowledge may lead to development of therapies to prevent or reduce the outcomes of WS.
ISSN:0004-2730