A mutation in a gene that helps regulate high blood pressure is a cause of inherited kidney disease, according to a new study by researchers at Wake Forest University School of Medicine, Charles University in Prague and colleagues.
The discovery provides insight into a protein, renin, that is important in blood pressure regulation, and reveals the cause of one type of inherited kidney disease occurring in adults and children, said co-investigator Anthony Bleyer, M.D., professor of internal medicine-nephrology at the School of Medicine.
The study is now available online and in the Aug. 14 issue of American Journal of Human Genetics. While more than 25,000 articles have been written about renin, this is the first article to identify a mutation in the renin gene as a cause of kidney disease.
Renin is a key component of blood pressure regulation. When blood pressure drops, kidney cells detect the change and release renin into the blood stream, where it converts inactive forms of the hormone angiotensin into angiotensin I. With the help of a molecule in the lungs called angiotensin-converting enzyme (ACE), angiotensin I is then converted to a much more powerful hormone, called angiotensin II, which acts directly on blood vessels to cause blood pressure increases.
Because of the significant role renin plays, an entire class of medications used to treat high blood pressure, called ACE inhibitors, are dedicated to preventing blood pressure from rising by blocking the renin from activating angiotensin.
A genetic mutation in the gene that encodes renin was first identified as the cause of an hereditary kidney disease by a research group led by Stanislav Kmoch, Ph.D., at Charles University in Prague. Working with Kmoch and Suzanne Hart, Ph.D., at the National Institutes of Health, Bleyer identified the condition among American families in his study group of families with rare, inherited kidney disease. Bleyer works with about 100 families throughout the world to identify the causes of inherited kidney disease that run in their families.