Erschienen in:
01.03.2008 | Commentary
Candidate gene studies reveal that the WFS1 gene joins the expanding list of novel type 2 diabetes genes
verfasst von:
J. Wasson, M. A. Permutt
Erschienen in:
Diabetologia
|
Ausgabe 3/2008
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Excerpt
Wolfram syndrome, originally described in 1938, is a rare, autosomal recessive disease that is characterised by young onset insulin-dependent diabetes, progressive sensorineural deafness, diabetes insipidus, autonomic nervous system dysfunction and, ultimately, brainstem atrophy and premature death [
1]. The Wolfram gene (
WFS1), which encodes wolframin, was mapped to chromosome 4p in families with multiple affected individuals [
2], and cloned in 1998 [
3]. Wolframin is a protein of 890 amino acids that is produced in a wide variety of tissues, most prominently in pancreatic beta cells and brain. Over 100 missense and non-sense mutations have been described patients. As these mutations are associated with a non-immune loss of beta cells and diabetes, the gene was subsequently evaluated in more common forms of diabetes. …
