Johanna DiStefano, PhD: Genetic Markers for End-Stage Renal Disease in Type 1 Diabetes Identified
By: Almas Eftekhari
Kidney disease, medically termed as diabetic nephropathy, is one of the most common complications that people with diabetes may experience. Diabetes is the leading cause of kidney failure, and its damaging progression can lead to terminal illness and even death for some individuals. Until recently, it was misunderstood why some individuals with diabetes were more inclined than others to develop chronic kidney failure. After observing a strong genetic influence in her research, Association-funded researcher Johanna K. DiStefano, PhD, of the Translational Genomics Research Institute in Phoenix, AZ, aimed to identify genes that contribute to the development of the most debilitating and fatal condition of nephropathy, called end-stage renal disease (ESRD).
"Identification of specific DNA variants may enhance our understanding of genetic risk factors for renal disease and may provide diagnostic value in determining which patients are at greatest risk for developing ESRD," said Dr. DiStefano. Assessing more than 1,000 individuals with type 1 diabetes, the research team used a groundbreaking DNA analysis technique that helped to identify the genetic markers responsible for causing ESRD. Dr. DiStefano additionally found that despite vast differences in origin and risk factors between type 1 and type 2 diabetes, the genetic determination for each is very similar. The results of the research were published in the December 2009 issue of Diabetic Medicine.
Current treatment for ESRD consists of renal replacement therapy -- costly procedures of kidney transplants and dialysis that total more than $16 billion a year for the 400,000 patients affected in the United States alone. Despite treatment, almost 25% of patients diagnosed with ESRD die within the first year. Facilitated by funding from the American Diabetes Association, this research may greatly improve both the quality and duration of life in patients who are at high risk for developing ESRD. According to Dr. DiStefano, "…our understanding of the inheritance and pathogenesis of the disease has been enhanced, providing the next step toward being better prepared to develop improved treatments to slow the progress of or even prevent diabetic kidney disease."
(Craig DW, Millis MP, Wolford JK. Genome-wide SNP genotyping study using pooled DNA to identify candidate markers mediating susceptibility to end-stage renal disease attributed to type 1 diabetes. Diabetic Medicine. 2009 Dec; 26(11):1090-98.)
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