Dominant-negative diabetes insipidus and other endocrinopathies
John A. Phillips III
John A. Phillips III
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Commentary

Dominant-negative diabetes insipidus and other endocrinopathies

Abstract

Familial neurohypophyseal diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutations in the arginine vasopressin (AVP) precursor. A new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study shows that FNDI is caused by retention of AVP precursors and progressive loss of AVP-producing neurons.

Authors

John A. Phillips III

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Figure 2

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In the pathogenesis of FNDI, normal and Cys67Ter AVP products interact t...
In the pathogenesis of FNDI, normal and Cys67Ter AVP products interact to prevent AVP secretion. These products also accumulate within, damage, and cause loss of AVP secretory cells.