"We don't want people to think we have found the final solution and answer," said Carol Feghali-Bostwick, an assistant professor of medicine and pathology at the University of Pittsburgh, and a member of the Scleroderma Foundation board of directors. "But they have shown that having this particular sequence in your DNA puts you at risk. It is a good candidate gene, but it doesn't explain why some people have the sequence but not the disease."
The researchers have found that the CTGF gene variant has lost the ability to regulate the production of the CTGF protein.
"They took an extra step in understanding the variant gene's functional role," Feghali-Bostwick said. "They have shown that this gene is not turned off as well as it should be."
The finding is consistent with reports of high levels of the CTGF gene in other diseases characterized by excessive scarring and fibrosis, including cirrhosis of the liver, some kidney diseases associated with diabetes and some heart conditions, the report said.
There is no immediate medical application of the finding, Lendahl said, "but all this knowledge will be useful in developing therapies to treat this disease. We know that this is one of the substances pushing the disease to develop, so if we develop ways to reduce CTGF, we may reduce the symptoms. We are trying to work out how proteins regulate this process so that we could develop drug therapies."
There's more on scleroderma at the U.S. National Library of Medicine.
SOURCES: Gisela E. Lindhal, Ph.D., principal research fellow, University College Medical School, London; Carol Feghali-Bostwick, Ph.D., assistant professor, medicine and pathology, University of Pitt
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