A mutation in a gene that helps regulate high blood pressure is a cause of inherited kidney disease, shows a collaborative study.
The discovery made by researchers Wake Forest University School of Medicine, Charles University in Prague, and colleagues 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.
Dr. Anthony Bleyer, professor of internal medicine-nephrology at the School of Medicine, points out that a mutation in the gene that encodes renin was first identified as the cause of an hereditary kidney disease by a research group led by Dr. Stanislav Kmoch, at Charles University in Prague.
Working with Kmoch and Dr. Suzanne Hart, at the National Institutes of Health, Bleyer identified the condition among American families in his study group of families with rare, inherited kidney disease.
The researchers revealed that families identified with the specific genetic mutation investigated in this study suffered from anemia in childhood, and progressive kidney disease resulting in the need for dialysis, a mechanical way to cleanse the blood.
Children typically have relatively low blood pressure. Adults suffer from gout and worsening kidney disease.
"There are many families with inherited kidney disease that do not know the cause and may suffer from this condition. We are interested in helping these families identify the cause of kidney disease that runs in their family," Bleyer said.
The researcher further revealed that the research team had identified a potential treatment for the disease, and a clinical trial was under way at Wake Forest University School of Medicine.
Understanding how the mutation in the renin gene affects these families also provides insight into how renin works in healthy individuals, for the low levels of renin in children with this condition appear to cause anemia.
The researchers say that the importance of renin in maintaining a normal blood count, and preventing anemia in childhood was not previously known.
They plan to continue researching renin with hopes of better understanding how the protein functions in health and disease.
A research articled describing their study has been published in the American Journal of Human Genetics.