24, February 2010
Scientists in Israel and US have identified new genetic factors that they say can help predict who will develop end–stage kidney disease (ESKD).
ESKD requires dialysis or transplantation to sustain life, and is fatal in most regions of the world, where these treatments are not available.
The research team, led by Prof. Karl Skorecki of the Technion–Israel Institute of Technology Faculty of Medicine, and Dr. Doron Behar of Rambam Medical Center, discovered highly informative DNA markers in the MYH9 gene.
These markers are closely linked to a presumed variant of the cellular nano–motor protein that the gene encodes, and they help explain the high incidence of ESKD requiring dialysis or transplantation among Americans of African ancestry – including African and Hispanic Americans.
The findings were the result of analyzing markers in the MYH9 gene in a group of 1,425 African American and Hispanic American subjects, including dialysis patients and control healthy subjects.
The gene was first reported to be associated with ESKD by two U.S. teams in 2008, and one of these teams led by Dr. Jeffrey Kopp and his colleagues of the National Institutes of Health are collaborators on the current Technion study.
These high risk markers are found in up to 60 percent of people originating from western and southern African regions, and their presence raises the risk of the disease by as much as three to four fold in individuals carrying risk markers at both parental copies of chromosome 22, on which the gene is located.
The actual emergence of kidney failure requires a combination of the risk variant of the gene, together with another trigger.
“These findings can advance the use of genetic screening for those at high risk of developing kidney failure, which might enable preventative early treatment in at risk individuals,” said Skorecki.
“The research findings will also advance future research into the mechanisms wherein abnormalities in the protein encoded by MYH9 affect the normal filtering function of the kidney, and thereby could lead to the development of new methods for treating and preventing terminal kidney failure,” Skorecki added.
The study has been published in the February 9th issue of Human Molecular Genetics.