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Scientists Discover Genetic Pathway that Could Lead to Drug Therapy for Kidney Disease |
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January 31, 2006 | (Santa Barbara, Calif.) – Scientists at the University of California, Santa Barbara have reported a discovery at the cellular level that suggests possibilities for drug therapy for kidney disease. |
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Over 600,000 people in the U.S. are affected by
the inherited kidney disease known as ADPKD, short for autosomal-dominant
polycystic kidney disease. In the U.S. this is more than the number of
individuals affected by cystic fibrosis, muscular dystrophy, hemophilia, Down's
syndrome, and sickle cell anemia combined. The disease is characterized by the
proliferation of cysts that eventually debilitate the kidney, causing kidney
failure in half of all patients by the time they reach age 50.
Currently no treatment exists to prevent or slow
cyst formation, and most ADPKD patients require kidney transplants or life-long
dialysis for survival, explained Thomas Weimbs, assistant professor of biology
at UCSB and director of the lab that made the discovery, which was reported in
the January issue of the journal Developmental Cell.
Kidney cells are lined with small hair-like
cilia. The cilia sense fluid flow as urine is passed through the kidney and they
send signals to the kidney cells that line the small canals –– called
tubules. It is the loss of cilia function that leads to polycystic kidneys.
"With polycystic kidneys, these tubular
cells think they have to repair an injury, and they ‘repair' by forming lots
of cysts," said Weimbs.
The disease is triggered by polycystin-1, a
large protein. If it mutates, then the mutation leads to polycystic kidney
disease. Even though polycystin-1 was discovered more than a decade ago, its
function has remained unknown.
In this study, Weimbs and his colleagues
discovered that, under normal conditions, the polycystin-1 keeps certain parts
of the cell localized in the cilia and away from the nucleus. These parts of the
cell are known as transcription factors. If there is an injury the flow of urine
stops, and the transcription factors migrate to the nucleus of the cell,
signaling the cell to divide to replace those cells that have been lost. In
patients with this disease the repair mechanism is always turned on because the
polycystin-1 is defective, or mutated.
The discovery of this pathway thus opens the
door to possible drug therapy for the disease. This is because the inhibition of
any step along this pathway should have beneficial effects. Weimbs and his team
are currently capitalizing on these findings by testing drugs to specifically
affect components of this novel pathway.
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| Source: http://www.ucsb.edu/ |
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