A molar pregnancy, medically referred to as a hydatidiform mole, is a rare and abnormal form of pregnancy characterized by the absence of an embryo and excessive growth of placental tissue. In Quebec, this condition occurs in approximately one out of every 600 pregnancies.
Among these cases, half are classified as androgenetic moles, which are formed solely from the father’s chromosomes without any maternal contribution. Advanced maternal age significantly increases the likelihood of these moles, with the risk rising nearly tenfold. Notably, androgenetic moles may develop into malignancies, resulting in placental cancer in up to 15% of cases.
Researchers at the Research Institute of the McGill University Health Centre (RI-MUHC) have recently identified six new genes—FOXL2, MAJIN, KASH5, SYCP2, HFM1, and MEIOB—linked to recurrent androgenetic moles, recurrent miscarriages, and infertility. Mutations in both copies of these genes (one inherited from each parent) were found to disrupt normal reproductive processes, offering critical insights into the underlying causes of these conditions.
The Role of Newly Identified Genes in Meiosis
Five of the newly discovered genes play a crucial role in Meiosis I, the specialized type of cell division required for the production of eggs and sperm in humans. Defects in these genes have previously been implicated in premature ovarian failure, a major cause of female infertility. Moreover, five of these genes are also associated with infertility in men, demonstrating their broad impact on reproductive health.
This groundbreaking research, published in the Journal of Clinical Investigation, represents a major step forward in understanding and diagnosing reproductive health issues. According to Dr. Rima Slim, Ph.D., the corresponding and co-senior author of the study, “Our findings suggest that recurrent androgenetic moles are a sign of ovarian aging. They will change current clinical practice by introducing the evaluation of ovarian reserve for patients with recurrent moles.” Dr. Slim serves as a Senior Scientist in the Child Health and Human Development Program at RI-MUHC and is also a Professor in the Department of Human Genetics at McGill University.
A Legacy of Discovery
This latest discovery builds upon the team’s previous work, which identified four other genes linked to recurrent molar pregnancies. These include NLRP7 (discovered in 2006) and MEI1, TOP6BL, and REC114 (identified in 2018). Together, these findings are poised to revolutionize molecular diagnostics for recurrent molar pregnancies, premature ovarian failure, and infertility in both men and women.
By uncovering the genetic mechanisms behind these conditions, the research promises not only improved diagnostic capabilities but also the potential to inform future therapeutic interventions.
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