Vasopressin V2 Receptor Mutants that Cause X-linked Nephrogenic Diabetes Insipidus: Analysis of Expression, Processing, and Function
|Title:||Vasopressin V2 Receptor Mutants that Cause X-linked Nephrogenic Diabetes Insipidus: Analysis of Expression, Processing, and Function|
|Authors:||Oksche, Alexander; Schulein, Ralf; Rutz, Claudia; Liebenhoff, Ursula; Dickson, MD, John; Muller, Helmut; Birnbaumer, Mariel; Rosenthal, Walter|
|Date Published:||October 01, 1996|
This translation by the NDI Foundation is to assist the lay reader. To provide a clear, accessible interpretation of the original article, we eliminated or simplified some technical detail and complicated scientific language. We concentrated our translation on those aspects of the article dealing directly with NDI. The NDI Foundation thanks the researchers for their work toward understanding and more effectively treating this disorder.
© Copyright NDI Foundation 2007 (JC)
In this study, the properties of five V2 receptor mutants were analyzed: L44F, L44P, W164S, S167L, and S167T.
The L44F and L44P mutations were found in two unrelated families with X-linked NDI. The S167L mutation caused X-linked NDI in at least seven unrelated families. In addition, the authors found an affected family with an S167T mutation.
Oksche, et al., biochemically demonstrated that the five naturally occurring point mutations in the V2 receptors (L44F, L44P, W164S, S167L, and S167T), found in families with X-linked NDI, are responsible for the disease. (Point mutations result from a change in the DNA molecule.) These mutant receptors are not able to bind to certain cells and, therefore, cannot do the job they are supposed to do.
The authors showed that four of five X-linked NDI mutations which were analyzed severely disturbed protein processing. If cells do not get the protein they need, they cannot function as they should.