Study: Hereditary FSGS Linked to Gene Location

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Reported July 8, 2010
Hereditary Kidney Disease Linked To Gene Location

(Ivanhoe Newswire) – Studying a family in which multiple generations have been afflicted by the kidney disease focal segmental glomerulosclerosis (FSGS), researchers have identified the location of a gene abnormality that causes the disorder in this particular family.

"We identified a region in the human genome on chromosome 2p that is linked to FSGS in a large family with more than 12 affected individuals," Rasheed Gbadegesin, MD, MBBS at Duke University Medical Center, was quoted as saying. "This discovery may eventually improve our understanding of the disease mechanisms of FSGS and may lead to identification of specific and less toxic therapy."

Gbadegesin is part of an international team looking for causative genes for FSGS, a disease characterized by progressive scarring of the kidney. It is a common cause of kidney failure, especially in children and young adults. This study included six families that were affected by familial FSGS, but had none of the gene abnormalities previously shown to cause the disease.

The new chromosome 2p locus was found in one Central European family. With information going back five generations, this family had at least 12 members affected by FSGS. The affected family members developed kidney disease in childhood or teen years and rapidly progressed to end-stage kidney failure before age 30.

The study only shows the location of the abnormal gene. "Our ultimate goal is to identify the defective gene in this family and try to understand how it causes FSGS," said Gbadegesin. "Presently we have narrowed the disease to a region of one million bases, out of over three billion bases present in humans."

Most cases of FSGS are not inherited. However, the researchers hope their discovery will lead to new insights into how FSGS develops and to improved treatments. "The available therapies for FSGS are not effective—they are nonspecific and have significant side effects," Gbadegesin explained. "Understanding the disease mechanisms has the potential for identification of specific and less toxic therapy down the road."

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SOURCE:  Journal of the American Society of Nephrology (JASN), July 8, 2010.


More information about this discovery here:

http://www.medscape.com/viewarticle/538667

[Deanne]

Interesting. My family took part in a Harvard study about hereditary FSGS. It's been a couple of years and I don't know that the results have been published yet.