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Newly discovered genetic disease sheds light on body's water balance

s low levels of cAMP.

In Feldman's experiments, cells with the R137C mutation proved to have four times as much cAMP as wild-type cells; those with the R137L mutation have 7.5 times as much. With no trigger from the vasopressin hormone, the V2 receptors nevertheless were active.

Feldman noted that an interesting aspect of the study was the time that it required, in comparison to the painstaking efforts required to isolate genes a decade ago. In nine months, this collaborative team was able to go from recognizing subtle new symptoms to identifying a new genetic disease. Feldman said, "This experimental research is an example of how close the basic science laboratory bench has moved to the patient's bedside in modern medicine. These two areas now complement each other and bench-to-bedside progress leads to more rapid advances that benefit our patients."

The authors note in the New England Journal article, "The V2 receptor has been an important tool for understanding the physiology of water balance -- (Also) it has served as a prototype for G protein-coupled receptor biology. Further characterization of NSIAD may offer additional insights into fluid homeostasis and clinical disease, as well as expand our understanding of GPCR signaling."

The group is now conducting a series of further studies in both the clinic and the laboratory to better understand how these mutations affect water balance.


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Source:University of California - San Francisco


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