Genetic Link to Kidney Disorder Found
MONDAY, July 21 (HealthDayNews) -- Two genetic mutations linked to the kidney disorder nephronophthisis (NPHP) are identified in two studies published in the August issue of Nature Genetics.
NPHP is the most common genetic cause of end-stage renal failure in children and young adults. Previous studies mapped four NPHP loci but identified only two genes -- nephrocystin and nephrocystin-4 -- linked to a juvenile form of the disease.
In the first of the two studies, University of Michigan researcher Friedhelm Hildebrandt and colleagues found that a form of NPHP in infants is caused by mutations in a gene called inversin.
The study also found inversin interacts with nephrocystin and is found in the primary cilium of the kidney. That's the area of the kidney that's affected in polycystic kidney disease, which has features that overlap those found in NPHP.
The second study was done by researchers at University Hospital in Freiburg, Germany. They identified a gene -- NPHP3 -- that is mutated in an adolescent form of NPHP.
The NPHP3 gene also interacts with nephrocystin. That suggests that the four NPHP genes together constitute a complex and may act by sensing signals from neighboring cells.
The German study also found mutations in NPHP3 are likely the cause of a particular mouse kidney disease called pcy. The researchers note that mice with pcy can be treated with a modified diet and steroids. That suggests a possible therapy for humans with NPHP.
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SOURCE: Nature Genetics, news release, July 20. 2003
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