TGEN logo

Kidney failure is increasingly affecting individuals especially in the Arizona’s Native American communities. A study undertaken by the Translational Genomics Research Institute (TGen) reveals some good news as it alleges to have discovered a genetic biomarker that may aid in treating kidney failure. This observation is based on the DNA analysis of American Indians in Arizona.

The investigators were able to reveal a link between End Stage Renal Disease (ESRD) or kidney failure and marker rs13315275. They also successfully found some lesser correlation between ESRD and four other markers. The authors noted that the five biomarkers of the gene SUCNR1 are discovered in the chromosomal region of the human genome 3q24-q27. Prior studies have apparently showed a link between this region and diabetic nephropathy (DM), or diabetic kidney disease.

“This study could someday lead to better treatment options for those patients suffering from diabetic kidney disease. We are conducting ongoing studies to further investigate these markers, and potentially what they might mean for the development of new therapeutics,” shared
Dr. Johanna DiStefano, Director of TGen’s Diabetes, Cardiovascular and Metabolic Diseases Division, and lead author of the study’s abstract.

Scientists recognize the receptor gene SUCNR1 as the one which acts on succinate in the kidneys to mediate the rennin-angiotensin system (RAS). This RAS is assumed to be a hormone system controlling the body’s blood pressure and fluid balance. The authors cautioned that high blood pressure may possibly damage the heart, kidneys and the adverse effects of diabetes seem to be heightened.

The scientists further examined the path affected by the PVT1 gene during the development of diabetic kidney disease. They then revealed that PVT1 expressed in mesangial cells are specialized cells around blood vessels in the kidneys. They seem to be five times higher in conditions of high glucose (high blood sugar) as compared to normal glucose levels. An elevation in the blood sugar levels further increases the risk to diabetes.

Dr. Lucrecia Alvarez, a TGen Post-Doctoral Fellow and the first author of the study’s abstract commented, “These findings show that additional study of the role of PVT1 in diabetic kidney disease is well-justified.”

Earlier initiated studies have supposedly linked PVT1 with kidney failure in patients with diabetes of both the autoimmune (type 1). It may commonly be caused by excessive weight, poor diet and lack of exercise (type 2).

The studies will be presented at the 70th Scientific Sessions of the American Diabetes Association, June 25-29, in Orlando, Florida.