St. Louis, May 2, 2007 -- There is renewed hope for treatment of a rare genetic condition that causes rapidly accelerated aging and leads to an average life expectancy of 13 years.
Scientists studying the genes of two infants who died of mysterious illnesses found the infants had mutations in LMNA, the same gene altered in patients with the premature aging condition progeria. But the infants' unusual mutations caused them to make many more bad copies of the gene's primary protein, lamin A, than progeria patients.
Both infants died very young and before researchers could fully unravel the cause of their disorders. But when researchers treated cell samples from one of the patients with a drug targeted for progeria, they saw signs that the cells were improving.
"Our success in treating these cells, which had unusually high levels of bad lamin A, suggest that progeria treatment may not be as distant as we thought," says senior author Jeffrey Miner, Ph.D., associate professor of medicine and cell biology and physiology. "If physicians can reduce production of bad lamin A by as little as half in progeria patients, we might see significant improvement."
Progeria treatment also has potential implications for larger populations. The LMNA gene is involved in several other more prevalent disorders including forms of muscular dystrophy and heart disease.
In addition, recent studies by other labs have shown that occasional errors in the production of lamin A may take place even in people with "normal" copies of the gene. Scientists suspect that accumulation of these bad copies may contribute to aging. If so, treatments that work for progeria patients may one day be adapted to reduce the effects of aging.
The results are published online in the journal Human Mutation.
Science still has much to learn about lamin A. When appropriately produced, the protein becomes part of a meshwork between DNA and the nuclear membrane, which keeps DNA in a p
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Contact: Michael C. Purdy
purdym@wustl.edu
314-286-0122
Washington University School of Medicine
2-May-2007