Motility is the most important property of mammalian sperm required for fertilization. Axoneme and axoneme surrounding tail components are the morphological substrate of sperm motility. Quantitative research methods of human spermatozoa motility allowed the definition of the normative parameters for fertile men. Exogenous factors, and, rarely, genetic defects may cause a significant reduction in sperm motility. Axonemal anomalies (absence of external and/or internal dynein arms, central pair of microtubules absence) may be the cause of primary ciliary dyskinesia (PCD). PCD—a severe systemic disease of the reduction of sperm motility—is just one symptom. Dysplasia of the fibrous sheath (DFO) is also genetically determined sperm motility decrease. PCD and the DFO are multigene diseases that are inherited in an autosomal recessive manner. Modern molecular biological research methods are used to identify candidate genes. Assisted reproduction technologies (ART) allow men suffering from PCD and DFO to produce offspring. PCD and DFO symptoms appear in the homozygote. Children born after ART have the probability of being mutation carriers. We do not have complete information about etiological factor of genetically determined spermpathology. So we cannot assess the genetic risk degree. However, the possibility of mutations accumulation, which can be a risk factor for distant offspring, should be considered.
Russian Journal of Developmental Biology – Springer Journals
Published: Sep 24, 2016
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