NEW YORK—A research collaboration involving Rockefeller University and more than two dozen other institutions has found a link between a gene mutation and chronic kidney failure, reported Medical Press.
The study, published in Nature Genetics in July, found patients who had a specific kind of kidney disease—called karyomegalic interstitial nephritis—were likely to also have a mutation on a particular gene, FAN1, which codes for a protein that helps fix DNA damage.
Agata Smogorzewska, assistant professor at Rockefeller and an expert on FAN1, worked with her lab to provide evidence of a causal relationship between the mutation and the disease.
Kidney disease is a health problem that has grown ever more prevalent in recent decades, and it can be due to a number of factors. The most common today is type 2 diabetes, which, with an increasingly overweight population, helps explain the recent rise of kidney problems.
This study brings light to a new, genetic factor in the complex picture of renal failure. Friedhelm Hildebrandt, a professor of pediatrics and human genetics at the University of Michigan, was sequencing the genes of a group of families with a history of kidney disease last year when he came across the FAN1 mutation.
His lab found that FAN1 was mutated in nine out of the 10 families with karyomegalic interstitial nephritis. Smogorzewska, head of the Laboratory of Genome Maintenance at Rockefeller, joined Hildebrandt in a collaboration to draw out the details of this possible genetic cause.
“Our lab is very interested in this gene and others that are involved in DNA damage, and we have the tools to study them, so we were eager to join Hildebrandt’s lab in understanding how these patients’ cells behaved,” Smogorzewska said.