An update for FA families

In the March 2019 issue of Trends in Genetics, researchers from St. Vincent’s Institute in Australia published a paper on the FA pathway and fertility. We asked the authors to provide a summary for FA families. Thank you, Dr. Wayne Crismani.

The review that I wrote with PhD student Vanessa Tsui was about fertility, Fanconi anemia, and the role of the FANC genes in reproduction. Before cells can divide during growth, they must first copy their DNA which is then divided between the two new cells. During embryo development, some cells are destined to become the stem cells for one’s sperm or eggs. The development of these special reproductive stem cells involves many rounds of copying DNA and cells dividing very quickly. The FANC genes are needed for all of this copying of DNA. While reproductive biology in patients with FA might not be studied extensively at the molecule level, the FA research community has learned a lot from mouse models of FA. What is seen in a number of FANC mouse studies is that there are less reproductive stem cells that have the potential to become sperm or egg in these mice. Further in male FANC mice, fertility decreases faster as they age than the non-FANC mice. These observations may be useful to investigate if the same is true for people, and to find ways to prolong fertility in individuals with FA.

Recently there have been clinical case studies where cases of FA have been diagnosed as a result of infertility. This contrasts from the way that FA is typically first suspected and diagnosed. These studies highlight how the ability to diagnose FA is becoming increasingly more sophisticated, and importantly means that these individuals can receive appropriate care. I believe that studies like these are just the beginning, and we are going to make significant leaps in understanding the relationship between fertility and FA in the coming years.