Chronic kidney disease characterized by declined kidney function or kidney damage appears as a serious public health problem worldwide. A team of investigators from the United States and Europe has laid hands on a single genetic mutation in the CUBN gene that may be linked with albuminuria both with and without diabetes. Probably triggered by the leaking of a protein named albumin into the urine, albuminuria is an indication of kidney disease.
At the time of the research, data from several genome-wide association studies was thoroughly scrutinized to detect missense variant (I2984V) in the CUBN gene. The link between the CUBN variant and albuminuria was seemingly found in 63,153 individuals with European ancestry and 6,981 individuals of African American ancestry. The study findings were allegedly observed in both the general population and diabetes patients.
“The significance of this finding is that even though the field has known about cubilin (the protein encoded by CUBN) function from experimental animal studies, our study was the first to establish the link between a genetic variation in this gene and albuminuria,” revealed Linda Kao, PhD, MHS, associate professor in the Johns Hopkins Bloomberg School of Public Health’s departments of Epidemiology and Biostatistics, and the senior Johns Hopkins author on the study. “The identification of CUBN and its association with albuminuria will lead to a multitude of follow-up work that will help us begin to understand the mechanism behind albuminuria and, hopefully, will ultimately lead to novel treatment targets.”
Increased levels of urinary albumin (albuminuria) are believed to be a key manifestation of chronic kidney disease. Risk factors for chronic kidney disease may be diabetes and hypertension. Also hereditary factors can seemingly lead to chronic kidney disease in some people. In conclusion it was mentioned that higher levels of albuminuria, even within the low normal range, are apparently related to heightened risks of end-stage renal disease, requiring kidney transplant or dialysis, cardiovascular disease and mortality.
The study is published in the March 2011 edition of JASN.