Genetic Factors of Polymorphic Teratozoospermia Development in Humans

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Nonspecific (polymorphic) teratozoospermia is a common male fertility, when the proportion of morphologically normal spermatozoa is lower than the reference values, while several types of morphological abnormalities of spermatozoa in different proportions are observed in the ejaculate sample. Polymorphic teratozoospermia is known to be resuled from both negative environmental and lifestyle factors, as well as the presence of pathogenic variants of certain genes. However, little attention is paid to the study of the genetic causes of polymorphic teratozoospermia. In this review, for the first time, as a result of an analysis of the published literature, as well as information from the databases Malacards, OMIM, KEGG, CTD, and DisGeNET, the evidence on 85 pathogenic variants of 51 genes related to the development of polymorphic teratozoospermia in humans has been obtained and systematized. According to the functional annotation of genes and the analysis of published literature, the products of these genes are involved in the organization of the components of the cytoskeleton of the spermatid – acroplaxome and perinuclear theca, which ensure the formation of the acrosome and the interaction of the acrosome vesicle with the nucleus, as well as intracellular transport of molecules, regulation of protein expression and degradation, and chromatin rearrangement during spermiogenesis. In addition, pathogenic variants of some genes lead to a decrease in the effectiveness of the natural antioxidant protection of cells and, as a result, the manifestation of teratozoospermia. This information can be useful for the diagnosis and choice of treatment tactics for polymorphic teratozoospermia, which can be caused by both genetic causes and the influence of negative environmental and lifestyle factors.

作者简介

M. Kleshchev

Federal Research Center Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences

编辑信件的主要联系方式.
Email: max82cll@bionet.nsc.ru
Novosibirsk, 630090 Russia

A. Osadchuk

Federal Research Center Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences

Email: max82cll@bionet.nsc.ru
Novosibirsk, 630090 Russia

L. Osadchuk

Federal Research Center Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences

Email: max82cll@bionet.nsc.ru
Novosibirsk, 630090 Russia

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