Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus
Status:
Completed
Trial end date:
1969-12-31
Target enrollment:
Participant gender:
Summary
OBJECTIVES: I. Determine whether diverse mutations of the vasopressin-neurophysin II
(AVP-NPII) gene cause autosomal dominant familial neurohypophyseal diabetes insipidus by
directing the production of an abnormal preprohormone.
II. Determine whether the AVP-NPII gene-directed preprohormone accumulates and destroys
magnocellular neurons because it cannot be folded and processed efficiently.