Ibdah said that because the enzyme is missing, fatty acid products accumulate, producing a toxic effect that probably leads to heart arrythmias as well as respiratory arrest.
The mouse model also demonstrates that these enzymes are important for fetal growth and development. "When they are not present, there is fetal growth retardation," Ibdah said. Previously, he said, it had been thought that these enzymes weren't needed by the fetus because the mother was supplying all the needed nutrients through the placenta.
Making the knockout mouse requires manipulation of the mouse stem cells. "You create a mutation in a specific location on the gene," said Ibdah. "It is much more labor intensive and more tedious than creation of a transgenic mouse, in which you inject DNA into a fertilized egg." He said the characterization of the mouse model was done in conjunction with Mark Cline, D.V.M., Ph.D., associate professor of pathology (comparative medicine.)
Besides Wake Forest researchers, the multi-center team includes investigators at the Mayo Clinic, the University of Texas Southwestern Medical Center at Dallas and Vanderbilt University School of Medicine.