[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 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.
Ribeiro
Maria Regina F
MR
Escola Paulista de Medicina, Universidade Federal de Sao Paulo, Sao Paulo, SP.
Crispim
Felipe
F
Vendramini
Márcio F
MF
Moisés
Regina S
RS
D006801:Humans; D008565:Membrane Proteins / Q000235:genetics / Q000502:physiology*; D009154:Mutation; D013997:Time Factors; D014929:Wolfram Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
D008565:Membrane Proteins; C114987:wolframin protein