Defective AVP mutants do not bind AVPR1A,B

Stable Identifier
R-HSA-5621425
Type
Reaction [transition]
Species
Homo sapiens
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Arginine vasopressin (AVP(20-28)) is a 9 amino-acid long signal peptide produced by cleavage of the precursor protein AVP in the hypothalamus. It mediates the reabsorption of water in the kidney and its synthesis and release are physiologically regulated by plasma osmolarity, blood pressure and/or blood volume. Mutations in AVP make it unavailable to its receptors (AVPR1A and AVPR1B) in the kidney, resulting in dysregulation of water reabsorption. This can cause familial neurohypophyseal diabetes insipidus (FNDI), an autosomal dominant disorder characterised by persistent excessive thirst resulting in constant drinking (polydipsia) and passage of large volumes of urine (polyuria). In FNDI, the production and release of AVP from the posterior pituitary gland is impaired (Moeller et al. 2013). Mutations that cause FNDI include A1T, E47del, C67*, G23R, P7L, Y2H and V67A (Ito et al. 1993, Yuasa et al. 1993, Nagasaki et al. 1995, Heppner et al. 1998, Willcutts et al. 1999, Rittig et al. 2002, Christensen et al. 2004).

Literature References
PubMed ID Title Journal Year
10369876 Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin

Willcutts, MD, Felner, E, White, PC

Hum. Mol. Genet. 1999
23360744 Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment

Moeller, HB, Rittig, S, Fenton, RA

Endocr. Rev. 2013
8514868 Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus

Ito, M, Oiso, Y, Murase, T, Kondo, K, Saito, H, Chinzei, T, Racchi, M, Lively, MO

J. Clin. Invest. 1993
9467595 Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus

Heppner, C, Kotzka, J, Bullmann, C, Krone, W, Müller-Wieland, D

J. Clin. Endocrinol. Metab. 1998
8103767 Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus

Yuasa, H, Ito, M, Nagasaki, H, Oiso, Y, Miyamoto, S, Sasaki, N, Saito, H

J. Clin. Endocrinol. Metab. 1993
14673472 Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis

Christensen, JH, Siggaard, C, Corydon, TJ, deSanctis, L, Kovacs, L, Robertson, GL, Gregersen, N, Rittig, S

Eur. J. Hum. Genet. 2004
7714110 Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus

Nagasaki, H, Ito, M, Yuasa, H, Saito, H, Fukase, M, Hamada, K, Ishikawa, E, Katakami, H, Oiso, Y

J. Clin. Endocrinol. Metab. 1995
12107248 Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor

Rittig, S, Siggaard, C, Ozata, M, Yetkin, I, Gregersen, N, Pedersen, EB, Robertson, GL

J. Clin. Endocrinol. Metab. 2002
Participants
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Disease
Name Identifier Synonyms
neurohypophyseal diabetes insipidus 12388 central diabetes insipidus, Vasopressin deficiency, vasopressin defective diabetes insipidus, Pituitary diabetes insipidus
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