Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)

Stable Identifier
R-HSA-5619099
Type
Pathway
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. AVP(20-28) binds to vasopressin receptors AVPR1 and 2, located on the basolateral surface of the kidney collecting duct. This binding results in interaction of AVPRs with the G protein alpha-s. Following a cascade of downstream events, ultimately the water channel aquaporin 2 (AQP2) translocates from intracellular stores to the apical surface where it functions as the entry site for water reabsorption. When water balance is achieved, plasma levels of AVP(20-28) drop and AQP2 levels in the apical plasma membrane are decreased.

Mutations in AVP make it unavailable to its AVPRs 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).

Literature References
PubMed ID Title Journal Year
23360744 Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment

Moeller, HB, Rittig, S, Fenton, RA

Endocr. Rev. 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
neurohypophyseal diabetes insipidus 12388 central diabetes insipidus, Vasopressin deficiency, vasopressin defective diabetes insipidus, Pituitary diabetes insipidus
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