Publications by authors named "E Dulioust"
Article Synopsis
- Sperm flagella and motile cilia share a similar microtubule structure, and issues with these structures can lead to male infertility, manifesting as isolated conditions or syndromes like Primary Cilia Dyskinesia (PCD).
- Two unrelated patients with multiple morphological abnormalities of sperm flagella (MMAF) were found to have distinct mutations in the PCD gene CCDC65, which leads to a significant decrease in its protein in sperm.
- This research demonstrates that CCDC65 is essential for sperm flagellum structure and suggests that mutations in this gene can cause asthenozoospermia, a condition characterized by reduced sperm motility.
Article Synopsis
- Sperm fertilization depends on effective movement through the female reproductive system and a process called capacitation, which is influenced by specific signaling pathways.
- Researchers studied an infertile patient with poor sperm motility and found harmful genetic variants affecting proteins related to sperm function.
- The study reveals that these genetic mutations impair sperm's ability to undergo necessary chemical changes for successful fertilization and identifies a crucial protein, IQCH, essential for sperm movement and capacitation.
Introduction: Nicotinamide nucleotide transhydrogenase (NNT) gene deficiency has recently been shown to be involved in Primary Adrenal Insufficiency (PAI). NNT encodes an inner mitochondrial membrane protein that produces large amounts of NADPH. NADPH is used in several biosynthesis pathways and the oxidoreduction of free radicals by the glutathione and thioredoxin systems in mitochondria.
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- The study investigates whether ICSI (intracytoplasmic sperm injection) outcomes are negatively affected in men with severe asthenozoospermia combined with multiple morphological abnormalities of the flagellum (MMAF).
- Results indicate that ICSI success for couples with MMAF is comparable to that of other infertile couples, despite some technical challenges encountered.
- The research involved a retrospective analysis of 25 infertile men diagnosed with MMAF, using advanced techniques to assess sperm structure and genetic causes, ultimately treating 20 couples with ICSI.