PMID: 18406826Apr 15, 2008Paper

Genetic basis of familial neurohypophyseal diabetes insipidus

Trends in Endocrinology and Metabolism : TEM
L K HansenG L Robertson

Abstract

Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomal dominant (adFNDI) or X-linked recessive (xrFNDI) disorder characterized by the development in early childhood of an irreversible deficiency of arginine vasopressin (AVP) secretion. Autopsy data in adFNDI reveal selective destruction of the posterior pituitary magnocellular neurons that normally produce the hormone. These abnormalities are due to a variety of mutations in the gene that encodes the AVP-neurophysin II precursor. Each one predicts a change in the primary structure of the preprohormone, and all but one are of a type known or reasonably presumed to impair the folding and cellular trafficking of the preprohormone. This pattern and the uniform clinical characteristics of adFNDI suggest that the disease is due to the production of a mutant precursor that is toxic for magnocellular neurons, because it cannot be folded, processed, or otherwise disposed of efficiently. Although the gene responsible for xrFNDI has not yet been cloned, the striking clinical similarities between adFNDI and xrFNDI suggest that similar pathophysiologic mechanisms may be involved.

References

Nov 1, 1992·Trends in Biochemical Sciences·R E Dalbey, G Von Heijne
Jan 1, 1991·Neuroradiology·S MiyamotoY Tanabe
Mar 1, 1990·The Journal of Clinical Endocrinology and Metabolism·D R RepaskeJ Battey
Feb 21, 1991·The New England Journal of Medicine·Y IwasakiA Tomita
Aug 24, 1990·Cell·R D Klausner, R Sitia
Aug 1, 1989·AJR. American Journal of Roentgenology·F GudinchetD Lallemand
Jun 11, 1986·Nucleic Acids Research·G von Heijne
Mar 1, 1987·Journal of Computer Assisted Tomography·I FujisawaK Torizuka
Mar 1, 1987·Journal of Computer Assisted Tomography·I FujisawaY Nakano
Sep 1, 1967·Brain : a Journal of Neurology·J R GreenA G Swanson
Feb 25, 1984·Journal of Molecular Biology·G von Heijne
Jan 1, 1984·Medit︠s︡inskai︠a︡ sestra·F M Egart
Jun 1, 1983·European Journal of Biochemistry·G von Heijne
Jun 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·S InouyeM Inouye
Jan 15, 1994·European Journal of Biochemistry·J Becker, E A Craig
Jun 1, 1996·European Journal of Endocrinology·T M FujiwaraD G Bichet
Aug 1, 1992·Trends in Cell Biology·A HeleniusI Braakman

❮ Previous
Next ❯

Citations

Jul 17, 1999·Trends in Endocrinology and Metabolism : TEM·D F Swaab
Jul 6, 2011·Nature Reviews. Endocrinology·Muriel BabeyGary L Robertson
Oct 6, 2000·The New England Journal of Medicine·M MaghnieM Aricò
Jun 4, 2008·Seminars in Nephrology·Anne J M LoonenPeter M T Deen
May 23, 2006·Seminars in Nephrology·Jane H Christensen, Søren Rittig
Jul 11, 2006·American Journal of Physiology. Renal Physiology·Joris H RobbenPeter M T Deen
Aug 26, 2009·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Ayhan AbaciPeter Kopp
Apr 25, 2007·Journal of Pediatric Endocrinology & Metabolism : JPEM·Stefano GhirardelloMohamad Maghnie
Jul 9, 2011·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Anne P Sinke, Peter M T Deen
Mar 5, 2004·The Journal of Biological Chemistry·Michael A FribergJonas Rutishauser
Sep 1, 2005·Journal of Pediatric Endocrinology & Metabolism : JPEM·Stefano GhirardelloMohamad Maghnie
Sep 27, 2001·Endocrinology and Metabolism Clinics of North America·G L Robertson

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.