A gene that may cause a deadly kidney disease in children has been
identified by pathobiologists at the University of Tennessee.
Dr. Richard Woychik, a professor in the UT-Knoxville Graduate School of
Biomedical Sciences at Oak Ridge, and Dr. Erby Wilkinson, associate
professor in the UT College of Veterinary Medicine, have uncovered the gene
that causes a disorder known as polycystic kidney disease in laboratory
The gene may cause the disease in some humans, Wilkinson said.
A report on their research is published in the current issue of Science .
''There are abnormal cells in the kidneys and livers of mice and humans
with this disease,'' Wilkinson said. ''Now that we have the gene, we hope
to determine exactly how it causes these cells to act abnormally.''
The dominant form of the disease occurs in one of every 500 people and is
the most common inherited disease known, Wilkinson said. It is the
third-leading cause of kidney failure and occurs mostly in middle-aged and
older people, he said.
The rarer form of the disease occurs in about one of every 10,000 children,
and it is almost always fatal within 24 hours of birth, he said.
The scientists are looking at human genetic samples from families with the
disease to determine if the gene has the same characteristic mutations as
it does in mice, Wilkinson said.
If so, a test can be developed to determine if people carry the gene and
whether their children would have the disease, he said.
If both parents are carriers, there is a 25 percent chance their child will
have the disease and a 50 percent chance the child will be a carrier,
The data might also be helpful in finding a cure. Even if researchers find
the gene does not cause the disease in humans, its discovery will help in
other ways, Wilkinson said.
''Once you find one gene involved in a disease, that helps you find other
genes involved in that disease,'' he said. ''We can use this gene to help
identify others which we could not have found before.''
Scientists may have found killer gene
Published: Fri Jun 10, 1994 | Modified: Sat Aug 06, 2005 12:44 p.m.