[Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients].
Neurogenic diabetes insipidus (NDI) is a rare condition characterized by polyuria and polydipsia caused by deficient arginine vasopressin hormone production. More than a 50 mutations have been identified for familial autosomic dominant neurogenic diabetes insipidus (FadNDI). These mutations can cause citotoxicity and lead to the degeneration of magnocellular neurons of the hipofisis by aberrant protein accumulation. The NDI diagnosis is based on the water deprivation test, quantification of AVP hormone and Magnetic Resonance Image (MRI), and in families with history of FadNDI has been suggested the molecular analysis of mutation in the arginine vasopressin neurophisin II gene before the signs and symptoms development, with the purpose of offering a suitable diagnosis, clinical follow up and treatment. The treatment with a synthetic analogue of AVP hormone allows the remission of the signs and symptoms in NDI patients and the advances in gene therapy in animal models has been promising, as much for NDI as for other diseases in which the mutant protein production has been involved.
Peralta-Leal
Valeria
V
Centre Universitario, Ciencias de la Salud, Universidad de Guadalajara.
Durán-González
Jorge
J
Leal-Ugarte
Evelia
E
D020790:Diabetes Insipidus, Neurogenic / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D009154:Mutation; D009481:Neurophysins / Q000235:genetics*; D011498:Protein Precursors / Q000235:genetics*; D014667:Vasopressins / Q000235:genetics*
C438657:AVP protein, human; D009481:Neurophysins; D011498:Protein Precursors; D014667:Vasopressins