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Genetic forms of neurohypophyseal diabetes insipidus

Spiess, Martin and Beuret, Nicole and Rutishauser, Jonas. (2020) Genetic forms of neurohypophyseal diabetes insipidus. Best Practice and Research Clinical Endocrinology and Metabolism, 34 (5). p. 101432.

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Abstract

In the majority of cases, hereditary neurohypophyseal diabetes insipidus (DI) is a monogenic disorder caused by mutations in the AVP gene. Dominant transmission is by far the most common form. In these patients, symptoms develop gradually at various ages during childhood, progressing with complete penetrance to polyuria and polydipsia that is usually severe. In autosomal dominant neurohypophyseal DI (ADNDI), the mutant prohormone is folding deficient and consequently retained in the ER, where it forms amyloid-like fibrillar aggregates. Degradation by proteasomes occurs, but their clearance capacity appears to be insufficient. Postmortem studies in affected individuals suggest a neurodegenerative process confined to vasopressinergic neurons. Other forms of genetic neurohypophyseal DI include the very rare autosomal recessive type, also caused by mutations in the AVP gene, and complex multiorgan disorders, such as Wolfram syndrome. In all individuals where a congenital form of DI is suspected, including nephrogenic types, genetic analysis should be performed.
Faculties and Departments:05 Faculty of Science > Departement Biozentrum > Growth & Development > Biochemistry (Spiess)
UniBasel Contributors:Spiess, Martin and Beuret, Nicole and Rutishauser, Jonas
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Elsevier
ISSN:1521-690X
e-ISSN:1532-1908
Note:Publication type according to Uni Basel Research Database: Journal article
Language:English
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edoc DOI:
Last Modified:19 Jan 2022 15:35
Deposited On:19 Jan 2022 15:35

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