Gene responsible for devastating kidney disease discovered
Washington: A gene that causes a
devastating kidney disease, mostly in children, has been
discovered by a team of American scientists.
Researchers from Children`s Hospital Boston and Brigham
and Women`s Hospital have identified the gene -- INF2 -- which
causes Focal Segmental Glomerulosclerosis (FSGS), the second
leading cause of kidney failure in children, according to The
The study, published in Nature Genetics, may provide
clues to developing treatments for the disease which currently
forces children and young adults onto dialysis and often
requires a kidney transplant.
No effective treatments are known, and years of
research have failed to uncover the underlying disease
The research team, led by Elizabeth Brown, identified
the gene by performing a genetic linkage analysis in two large
families with FSGS.
Linkage analysis is a gene-finding technique that
compares affected with unaffected family members, looking for
a piece of DNA whose location is already known, and that is
inherited only by affected members.
Using that piece of DNA as a "signpost", researchers can
then look nearby to find the disease gene.
Brown said, "There have been a few descriptions of other
genes that result in FSGS, but we think INF2 is an important
find". "Mutations on this gene seem to affect larger numbers of
families than those on previously discovered genes, and may be
more relevant in understanding how the disease originates
physiologically," she added.
According to the researchers, the discovery that
multiple families have mutations in INF2 is exciting.
"It not only furthers our understanding of FSGS, but
also tells us that INF2 and the pathways in which it is
involved are important for normal kidney function," they said.
"FSGS is a frustrating disease for clinicians, as we
have little understanding of the biology and poor treatment
options. We hope that further scientific work on INF2 will
lead to better options."
FSGS attacks the kidney`s filtering system, causing
proteins to be lost into the urine and reducing the kidney`s
ability to filter wastes from the blood.
According to NephCure, which helped fund the study, 26
million Americans suffer from chronic kidney disease, of which
FSGS is one of the most common forms.
Patients with FSGS are often treated with steroids,
which are only partially effective and have very harsh side
In addition, they often face several trips a week to the
hospital for dialysis, and many require a kidney transplant,
along with lifelong treatment with powerful immuno-suppressants
to prevent organ rejection.
First Published: Thursday, December 24, 2009, 00:00
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