Defining the genetic causes and molecular mechanisms associated with male infertility due to asthenozoospermia.
Asthenozoospermia, defined by the absence or reduction of sperm motility, is induced by structural defects of the sperm flagellum and/or functional alterations that impair flagellar beating and sperm progression. Although it is observed in nearly 80% of male infertility cases, either alone or in association with other sperm defects, the genetic causes and associated pathophysiological mechanisms of this condition are still poorly defined. Our group made major achievements in the genetic definition of human asthenozoospermia. By analyzing patients displaying asthenozoospermia (either isolated or syndromic, i.e. Primary Ciliary Dyskinesia), in collaboration with physicians and geneticists specialized in reproductive biology, our group contributed to the identification of a dozen genes containing variants that account for asthenozoospermia due to severe morphological abnormalities of the flagellum (MMAF phenotype). Importantly, our group also identified causes for human asthenozoospermia due to functional defects (SLC26A8, SLC9C1).
Our current work is focused on the functional characterization of novel genes identified with mutations in humans in order to provide further knowledge on the molecular mechanisms required for proper sperm motility and cues for therapeutic strategies.
International Journal of Molecular Sciences 23, (2022)
Clinical genetics 99, 684—693 (2021)
Human reproduction (Oxford, England) , (2021)
Human genetics 140, 21—42 (2021)
American journal of human genetics 92, 760—766 (2013)