Publications by authors named "Zeina Wehbe"
Article Synopsis
- Small RNAs, particularly piRNAs, are essential for male germ cell development, with disruptions leading to male infertility through issues like spermatogenic defects and oligo-astheno-teratozoospermia (OAT).
- The HENMT1 gene is critical for the biogenesis of piRNAs, and its dysfunction can cause severe sperm abnormalities and infertility, as seen in both knockout mice and patients with HENMT1 variants.
- The study aimed to explore the potential for using sperm from two patients with HENMT1 variants in assisted reproductive technologies, but despite thorough analyses and multiple IVF-ICSI attempts, no live births were achieved.
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.
Int J Mol Sci
January 2023
Article Synopsis
- Male infertility, specifically the MMAF phenotype, involves severe sperm flagellum defects linked to multiple genetic factors, with around 40 known associated genes.
- In a study of 167 MMAF patients, researchers identified new pathogenic mutations in the DNHD1 gene, previously recognized for its role in this condition, highlighting its crucial function for sperm flagellum structure.
- Advanced imaging techniques confirmed significant abnormalities in sperm cells from mutated patients, reinforcing the importance of understanding these genetic mutations for diagnosing unexplained cases of male infertility.
