Rebecca Zaremba, Ross University
Cases/Abstracts, Honorable Mention
For many years, millions[ACL1] of healthy women and their families have suffered from miscarriage, which is openly defined as the loss of a fetus under 20 weeks of age (The March of Dimes). The trauma of miscarriage often impacts entire families, from expectant mothers and fathers to siblings, grandparents, aunts and uncles. Many factors can cause miscarriage, and most of these are poorly understood. It is important to determine etiologies of miscarriage and it is also equally important to be able to understand that these tragedies do not disappear after the loss of the baby. Fortunately, the veterinary field has helped immensely in determining specific point mutations which are thought to be responsible for such tragedies in humans.
One of the long-term goals of the Lossie lab is to understand the genetic and epigenetic causes of miscarriage. In an effort to understand these mechanisms, we have characterized two lethal mutations in mice known as l11Jus1 (L1) and l11Jus4 (L4). L1 and L4 are two separate mutations in a gene called Notchless (Nle1), which is a component found downstream to the Notch pathway (Baumgarner et al. 2007). These two mutant lines survive through the blastocyst stage (Figure 1) and are able to successfully implant into the uterus. However, neither L1 nor L4 survive past implantation; they arrest prior to gastrulation, which eventually leads to an immature body.
Figure 1. Implantation