Publications by authors named "Zeinab Sakheli"
Am J Hum Genet
December 2019
Article Synopsis
- Structural defects in sperm flagella lead to asthenozoospermia, a common issue in infertile men, particularly seen as "short tails" (MMAF).
- Research on 167 individuals with MMAF revealed that over 30% had harmful mutations, notably in the TTC29 gene, which is crucial for sperm flagellar function.
- Further studies in model organisms confirmed that TTC29 is vital for maintaining proper sperm flagellum structure and movement, linking its mutations to male infertility.
Article Synopsis
- The axoneme, a conserved microtubule structure in motile cilia and sperm flagella, is crucial for motility, and defects in it can lead to primary ciliary dyskinesia (PCD) and related health issues like male infertility and respiratory infections.!
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- Recent findings link mutations in axonemal protein genes, particularly in a protein called AK7, to male infertility characterized by Multiple Morphological Abnormalities of the sperm Flagella (MMAF), without PCD symptoms.!
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- This study identifies a specific mutation in AK7 that causes loss of the protein in sperm but not in respiratory cells, highlighting that cilia and sperm flagella, while similar, may
