The new research presents a novel approach to gene therapy in treating the most common inherited anemias: the thalassemias. Thalassemias are genetic blood diseases that result in failure to produce sufficient hemoglobin, the oxygen-carrying protein component of blood cells. This failure is caused by defects in the genetic code responsible for the production of this protein.
Scientists have explored gene therapy for these disorders for more than 20 years; only recently has this area seen a glimmer of hope. The report from the University of North Carolina at Chapel Hill is slated to appear in the Dec. 15 issue of Blood, the journal of the American Society of Hematology, and is currently online at www.bloodjournal.org.
"This research offers a new way to treat the thalassemias, by blocking a deleterious process that causes several forms of the disease," said senior study author Dr. Ryszard Kole, professor of pharmacology, and a member of UNC Lineberger Comprehensive Cancer Center and the curriculum in genetics and molecular biology at the UNC School of Medicine.
The thalassemias are caused by a variety of different mutations in the globin gene, many of which adversely affect a process known as RNA splicing.
Three billion bases - molecules that constitute DNA - form the human genome. Only a small percentage actually code for the gene products necessary for existence. These small coding regions are like words that make sense in a long continuous string of gibberish, which must be spliced out to create a meaningful message that can then be read to make the corresponding protein. Short sequences at the
border between the sense and nonsense regions, called splice sites, tell the splicing machinery where to
cut, where to paste and what information can be d
Contact: Leslie Lang
University of North Carolina School of Medicine