WATERTOWN, Mass., Dec. 1 /PRNewswire/ -- This week the Journal of Clinical Investigation (JCI), a top-tier journal that publishes biologically significant findings with clinical relevance, will publish the research findings of a team of scientists at the not-for-profit Boston Biomedical Research Institute (BBRI). The discovery holds promise for development of new treatments for a type of congenital muscular dystrophy in which patients have severe muscle weakness beginning in infancy.
Led by Dr. Jeffrey Boone Miller, the team at BBRI is seeking to identify therapies for Congenital Muscular Dystrophy Type 1A, CMD1A, by preventing a type of cell death termed apoptosis, or programmed cell death. Though apoptosis is a normal process that is used to remove damaged cells from the body, an excess of apoptosis, as occurs in some diseases, can cause excessive tissue loss and be deleterious. Preventing such excessive programmed cell death might thus restore the normal balance of cell life and death and ameliorate diseases such as congenital muscular dystrophies.
"Dr. Miller's discovery of the role of apoptosis in congenital muscular dystrophy highlights the power of basic science and disease model research to reveal new therapeutic approaches for human disease, which is a hallmark of BBRI research," says BBRI's director Dr. Charles Emerson.
As a disease model for CMD1A, Dr. Miller's laboratory is studying mice in which a gene called Lama2 has been made nonfunctional. In their work, Dr. Miller's group has shown that muscle disease in the Lama2-deficient mice is improved by genetic alterations that inhibit programmed cell death. Specifically, both the growth and the survival of Lama2-deficient mice are greatly improved when apoptosis is inhibited by genetically removing a protein termed Bax, which promotes cell death. These findings provide new insight into the normal function of Lama2 as a signaling protein that instructs muscles that they are healthy and identify Bax as a drug target for the development of pharmacological therapeutics to treat CMD1A muscular dystrophy.
Dr. Miller's laboratory is now working to screen for Bax drug inhibitors to treat CMD1A in the Lama2-deficient mouse model as well as to determine if additional neuromuscular degenerative diseases, such as Limb-Girdle Muscular Dystrophies, can be ameliorated by targeted alterations of Bax and other Bcl-2 checkpoint proteins. The JCI has been published continuously since 1924, and has been a free access journal since 1996.
Boston Biomedical Research InstituteCONTACT: Virginia Sullivan of Boston Biomedical Research Institute,+1-617-658-7711, sullivan@bbri.org
Web site: http://www.bbri.org/