Publications by authors named "J M Escoffier"
Article Synopsis
- - A study involving 167 infertile patients identified bi-allelic mutations in the CCDC146 gene, linked to a condition known as multiple morphological abnormalities of the flagellum (MMAF) affecting sperm structure.
- - Researchers developed a knock-out mouse model, which showed that male mice lacking CCDC146 were infertile and had sperm characteristics similar to those of the mutated patients.
- - CCDC146 is important for the proper formation of sperm structures like the axoneme and other microtubule-related organelles, highlighting its role as a microtubule inner protein (MIP) that can lead to infertility when mutated.
Article Synopsis
- * Researchers discovered homozygous variants linked to the condition in four unrelated patients, which disrupted the localization of certain proteins essential for sperm flagellum function.
- * The study identified ZMYND12 as a new gene associated with asthenoteratozoospermia, which forms a complex with other proteins critical for sperm motility, affecting male fertility.
Treatment of Mouse Sperm with a Non-Catalytic Mutant of PLA2G10 Reveals That PLA2G10 Improves In Vitro Fertilization through Both Its Enzymatic Activity and as Ligand of PLA2R1.
Roland Abi Nahed Magali Dhellemmes Christine Payré Emilie Le Blévec Jean-Philippe Perrier Jessica Escoffier
Int J Mol Sci
July 2022
Article Synopsis
- - The enzyme phospholipase A2 (PLA2G10) enhances the acrosome reaction in mouse sperm, improving fertilization rates, and its action involves an autocrine feedback loop where it amplifies its own secretion.
- - In IVF studies, sperm from mice lacking PLA2G10 produced fewer embryos, but adding recombinant PLA2G10 could restore fertility; the catalytic activity of PLA2G10 is crucial, as shown by how inhibitors affect fertility outcomes.
- - The mutated form of PLA2G10, which has low enzymatic activity but binds well to the receptor PLA2R1, shows varying effects on fertility depending on the mouse strains used, indicating that PLA2G10's role in
Male infertility is an important health concern that is expected to have a major genetic etiology. Although high-throughput sequencing has linked gene defects to more than 50% of rare and severe sperm anomalies, less than 20% of common and moderate forms are explained. We hypothesized that this low success rate could at least be partly due to oligogenic defects - the accumulation of several rare heterozygous variants in distinct, but functionally connected, genes.
View Article and Find Full Text PDFArticle Synopsis
- * A study using a mouse model discovered that male offspring from mothers on a low-protein diet during pregnancy and nursing had normal sperm structure and count but reduced fertility as adults.
- * The research highlights that maternal nutritional stress can alter sperm capacitation, lowering fertilization success while leaving sperm production unchanged, suggesting implications for understanding and treating certain infertility cases.