The study only shows the location ("locus") of the abnormal gene. "Our ultimate goal is to identify the defective gene in this family and try to understand how it causes FSGS," says 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 explains. "Understanding the disease mechanisms has the potential for identification of specific and less toxic therapy down the road."

The researchers note that the chromosome 2p abnormality appears rare. "We have not been able to identify additional families with defects in the same region of this disease locus" says Gbadegesin.

SOURCE Journal of the American Society of Nephrology