HudsonAlpha scientists confirm genetic variant related to kidney disease

March 8 is National Kidney Day

As National Kidney Day is recognized on March 8, HudsonAlpha Institute for Biotechnology scientists announce a discovery about how a genetic change, or variant, in a single DNA building block encompassing the SHROOM3 gene is connected to chronic kidney disease, affecting how the gene is regulated in the kidney. They also identified a rare genetic alteration in the SHROOM3 gene that changes how the protein functions in the kidney. Their discoveries were published online February 23 in the Journal of the American Society of Nephrology.

The project described in the paper examined genetic variants that had been identified by comparing the DNA sequences of a variety of individuals to identify variants associated with kidney traits. However, while the observation of a potential connection between a gene and a specific trait is useful, it does not confirm that the gene actually causes kidney impairement.

“Sequencing has identified many variants that contribute to disease, but few are understood mechanistically, especially for kidney disease,” said Jeremy Prokop, PhD, the lead author for the paper and a former senior scientist at HudsonAlpha. “This paper is one of the first to show the biological pathway for how a variant in a gene that is known to be related to chronic kidney disease results in the condition through protein regulation in a specific kidney cell type.”

Chronic kidney disease is a condition characterized by a gradual loss of kidney function over time. Understanding the disease at a genetic level could help researchers and physicians develop customized treatment strategies for individuals suffering from chronic kidney disease and also increase detection of disease before progressing into end stage renal disease. This personalized medicine approach could improve the lives of the more than 30 million American adults who have been diagnosed with chronic kidney disease.

“The results of the study demonstrate the importance of studying the function of gene variants after they are identified by sequencing studies as potential contributors to a disease,” said Jozef Lazar, MD, PhD, the senior author on the paper and a research faculty investigator at HudsonAlpha. “This knowledge will be useful in understanding development and progression of kidney diseases.”