News
Journal reports Baylor, University of Florida researchers find genetic code change that causes rapid liver failure in Alpha-1 babies
HOUSTON, TX—A single change in the genetic code for a “checkpoint enzyme” reduces its activity in the cell and results in rapid and early liver failure in children born with Alpha-1 Antitrypsin Deficiency, say researchers from Baylor College of Medicine and the University of Florida in a recent report in the medical journal Hepatology.
The research team included Richard Sifers, PhD, associate professor of pathology at Baylor College of Medicine; Mark Brantly, MD, director, and Farshid Rouhani, MS, assistant director, of the Alpha-1 research program at the University of Florida; and Shujuan Pan, Lu Huang, John McPherson, Donna Muzny and Richard Gibbs, all of Baylor.
Funding for the research came from the National Institutes of Health, the Fernandez Liver Initiative and the Alpha-1 Foundation.
Alphas—people born with a defective gene for alpha-1 antitrypsin—do not make a form of the protein that can protect the lungs because it is inappropriately retained in the liver. Some people with Alpha-1 also have liver disease, but the age at which it occurs varies.
In this study, researchers identified a particular mutation in the gene for a “checkpoint enzyme” called ER mannosidase I, or “ERMan1.” This mutation leads to early liver failure, and without a transplant, many such infants die.
