TUESDAY, Oct. 19, 2004 (HealthDayNews) -- Scientists at UCLA have developed a way to fix one of the genetic mutations that causes a life-shortening disorder called ataxia telangiectasia, a new study says.
The research may help in the development of treatments for A-T, as well as cancer and other genetic diseases, the scientists say. The report appears in this week's issue of the Proceedings of the National Academy of Sciences.
A-T, which destroys the neurological and immune systems, usually strikes children before age 2. Many lose their ability to speak and die in childhood. Adults who carry the mutated A-T gene (ATM) are eight times more likely to develop cancer than the general population, the scientists said.
The UCLA researchers developed a way to trick the ATM gene into overlooking certain types of mutations called premature termination codons (PTCs).
In normal cells, termination codons inform the cell's protein-reading machinery that a protein has reached its full length and completed copying. But the mutated PTCs in A-T patients stop the copying of proteins too soon, leading to shortened and unstable ATM proteins.
"Unstable proteins create abnormal cells that can't function properly, producing all of the neurological and immune problems that afflict A-T patients," study first author Chih-Hung Lai said in a prepared statement.
He and his colleagues used antibiotics called aminoglycosides to make the PTCs invisible to the cell's protein-reading system. After four days of exposure to the antibiotics, cells that previously contained little or no ATM protein had grown full-length ATM proteins. The cells had converted to normal appearance and started to function normally.
"About one in six A-T patients has a PTC type of mutation. We hope that our findings will provide a solid first step to gene-based therapy for this group," Lai said.
More information
The U.S. National Institute of Neurological Disorders and Stroke has more about ataxia telangiectasia.
