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Phillips, J.A.

Phillips,

Dominant-negative diabetes insipidus and other endocrinopathies.

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.[1]

References

Dominant-negative diabetes insipidus and other endocrinopathies. Phillips, J.A. J. Clin. Invest. (2003) [Pubmed]

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