Genetic forms of neurohypophyseal diabetes insipidus.

Détails

ID Serval
serval:BIB_F08A88014F7B
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Genetic forms of neurohypophyseal diabetes insipidus.
Périodique
Best practice & research. Clinical endocrinology & metabolism
Auteur(s)
Rutishauser J., Spiess M., Kopp P.
ISSN
1878-1594 (Electronic)
ISSN-L
1521-690X
Statut éditorial
Publié
Date de publication
03/2016
Peer-reviewed
Oui
Volume
30
Numéro
2
Pages
249-262
Langue
anglais
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Résumé
Neurohypophyseal diabetes insipidus is characterized by polyuria and polydipsia owing to partial or complete deficiency of the antidiuretic hormone, arginine vasopressin (AVP). Although in most patients non-hereditary causes underlie the disorder, genetic forms have long been recognized and studied both in vivo and in vitro. In most affected families, the disease is transmitted in an autosomal dominant manner, whereas autosomal recessive forms are much less frequent. Both phenotypes can be caused by mutations in the vasopressin-neurophysin II (AVP) gene. In transfected cells expressing dominant mutations, the mutated hormone precursor is retained in the endoplasmic reticulum, where it forms fibrillar aggregates. Autopsy studies in humans and a murine knock-in model suggest that the dominant phenotype results from toxicity to vasopressinergic neurons, but the mechanisms leading to cell death remain unclear. Recessive transmission results from AVP with reduced biologic activity or the deletion of the locus. Genetic neurohypophyseal diabetes insipidus occurring in the context of diabetes mellitus, optic atrophy, and deafness is termed DIDMOAD or Wolfram syndrome, a genetically and phenotypically heterogeneous autosomal recessive disorder caused by mutations in the wolframin (WFS 1) gene.
Mots-clé
Animals, Diabetes Insipidus, Neurogenic/genetics, Diabetes Insipidus, Neurogenic/pathology, Humans, Mutation, Neurophysins/genetics, Phenotype, Protein Precursors/genetics, Vasopressins/genetics, AVP gene, Wolfram syndrome, arginine vasopressin, diabetes insipidus, endoplasmic reticulum, mutation, neurogenic, neurophysin
Pubmed
Web of science
Création de la notice
27/12/2020 14:56
Dernière modification de la notice
28/12/2020 7:26
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