Current developments in Wolfram syndrome

J Pediatr Endocrinol Metab. 2009 Jan;22(1):3-10. doi: 10.1515/jpem.2009.22.1.3.

Abstract

Wolfram syndrome (WS), an infrequent cause of diabetes mellitus, derives its name from the physician who first reported the combination of juvenile-onset diabetes mellitus and optic atrophy. Also referred to as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness), it is an autosomal recessive neurodegenerative disease characterized by various clinical manifestations, such as diabetes mellitus, optic atrophy, diabetes insipidus, deafness, neurological symptoms, renal tract abnormalities, psychiatric manifestations and gonadal disorders. The condition is very rare with an estimated prevalence of one in 770,000 of the normal population, one out of 150 cases of juvenile-onset insulin-dependent diabetes mellitus, and with a carrier frequency of one in 354. This progressive neurodegenerative disease usually results in death before the age of 50 years and many patients lead a morbid life. The pathogenesis of the disorder although unknown is ascribed to mutation of a gene on chromosome 4p encoding a transmembrane protein of undetermined function called wolframin. This review summarizes the variable presentation of the disorder, its widespread complications, poor quality of life in affected individuals, and the problems in diagnosis and treatment of the syndrome.

Publication types

  • Review

MeSH terms

  • Animals
  • Calcium-Binding Proteins / genetics
  • Calcium-Binding Proteins / physiology
  • Genetic Predisposition to Disease
  • Humans
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology
  • Polymorphism, Genetic / physiology
  • Wolfram Syndrome / complications
  • Wolfram Syndrome / diagnosis
  • Wolfram Syndrome / epidemiology
  • Wolfram Syndrome / etiology*

Substances

  • Calcium-Binding Proteins
  • LETM1 protein, human
  • Membrane Proteins
  • wolframin protein