University of Pittsburgh Medical Center researchers said liver scarring caused by antitrypsin deficiency is the most common genetic cause for which children undergo liver transplantation. In the classic form of the disease, the scientists said, a gene mutation leads to an abnormal protein, called ATZ, which is prone to aggregation.
"These aggregates of ATZ accumulate in the liver cells and eventually lead to scarring, or fibrosis, of the organ and set the stage for tumor development," said Dr. David Perlmutter, a professor at the University of Pittsburgh School of Medicine, who led the research.
For the study, he and his colleagues treated a mouse ATZ cell line with carbamazepine (Tegretol), a drug that's been used primarily to treat seizure disorders, and found it caused a marked decrease in ATZ.
"The most amazing finding was that the drug reversed the fibrosis in the livers of the mice and, after two weeks of treatment, the liver tissue resembled that of a healthy mouse," Perlmutter said.
The study that included Tunda Hidvegi, Simon Watkins and George Michalopoulos appears in the online journal Science Express prior to publication in Science magazine.
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