Research sheds light on cause of Down syndrome and other genetic disorders
Monday, July 20, 2009 - 11:35
in Biology & Nature
Scientists have a better understanding of what causes an abnormal number of chromosomes in offspring, a condition called aneuploidy that encompasses the most common genetic disorders in humans, such as Down syndrome, and is a leading cause of pregnancy loss. To pinpoint what goes awry in these cases, researchers at the U.S. Department of Energy's Lawrence Berkeley National Laboratory and the University of Tennessee, Knoxville studied mice. They found that if a mother's egg cell has a mutation in just one copy of a gene, called Bub1, then she is more likely to have fewer offspring that survive to birth.