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Detection of candidate nectin gene mutations in infertile men with severe teratospermia.

ABSTRACT: PURPOSE:Approximately 40% of infertile men have an abnormal semen analysis, resulting from either abnormalities of sperm production (defective spermatogenesis) or sperm shape (defective spermiogenesis). This latter process is dependent upon the function of Sertoli cells, which maintain specialized junctional complexes with germ cells. Nectins, members of the immunoglobulin superfamily, participate in formation of these dynamic complexes. Male mice in which the nectin-2 or nectin-3 gene is knocked out are sterile. Their spermatozoa exhibit severe teratospermia, altered motility, and an impaired ability to fertilize eggs. We asked whether mutations in the protein coding regions of the nectin-2 (aka PVRL2) and nectin-3 (aka PVRL3) genes could be detected in men from infertile couples whose semen analysis revealed unimpaired sperm production, judged by normal sperm concentration, but severe abnormalities in sperm shape. METHODS:Ejaculates were snap frozen in liquid nitrogen and later submitted for Sanger analysis of these two genes, to detect mutations in their protein coding regions. RESULTS:Eighty-nine of 455 ejaculates (19.5%) met the inclusion criteria for study. Two of the 56 samples that were successfully analyzed for nectin-2 (3.6%) and one of 73 (1.3%) analyzed for nectin-3 possessed possibly damaging mutations. CONCLUSIONS:Despite the small-scale nature of the study, at least two low-frequency deleterious variants were identified. These results suggest the need for a larger-scale study of sequence variants in the nectins in severe teratospermia.

SUBMITTER: Bronson R

PROVIDER: S-EPMC5633573 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

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Detection of candidate nectin gene mutations in infertile men with severe teratospermia.

Bronson Richard R Mikhailik Anatoly A Schwedes John J Gnatenko Dimitri D Hatchwell Eli E

Journal of assisted reproduction and genetics 20170708 10

<h4>Purpose</h4>Approximately 40% of infertile men have an abnormal semen analysis, resulting from either abnormalities of sperm production (defective spermatogenesis) or sperm shape (defective spermiogenesis). This latter process is dependent upon the function of Sertoli cells, which maintain specialized junctional complexes with germ cells. Nectins, members of the immunoglobulin superfamily, participate in formation of these dynamic complexes. Male mice in which the nectin-2 or nectin-3 gene i ...[more]

PMID: 28689229

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Project description:BackgroundAsthenozoospermia is a chief reason for male seminal pathologies with an impression of around 19% of infertile patients. Spermatozoa mitochondrial DNA variations seem to link with low sperm motility. The objective of the study was to assess the relation between mitochondrial mutations and male sterility, especially in asthenozoospermia. The patient semen samples were investigated by studying the sperm physical characters; motility, viability, and morphological parameters were then classified into normozoospermia and asthenozoospermia. In addition, the level of malondialdehyde (MDA) as a bio-indicator of lipid peroxidation, seminal fructose, and total antioxidant capacity (TAC) were estimated. For molecular analysis, DNA from the semen samples was extracted using a DNA extraction kit. ND1, ND2, and ATPase6 genes were amplified by using a specific primer. After the purification procedure, each PCR product was sequenced to identify the single nucleotide polymorphisms (SNPs) in selected genes.ResultsA significant negative correlation between seminal plasma malondialdehyde levels and sperm motility was detected. Meanwhile, TAC analysis revealed significantly lower activity (p ? 0.05) in the sample of asthenozoospermic than in normozoospermic men. As regards the seminal plasma fructose, there was no significant difference in the fructose level of normozoospermia and asthenozoospermia cases. At the molecular level, 31 diverse nucleotide substitutions were recognized in mitochondrial DNA. Only ten (10) mutations led to amino acid transformation: four have deleterious effects, four are benign, and the other two have conflicting effectiveness.ConclusionsThis study is the first in Egypt that is concerned with studying the relationship between the mitochondrial DNA mutations in human spermatozoa of asthenozoospermic patients and fertility. The results displayed scientific indications evidenced that there is an association between mitochondrial mutations and male infertility.

Dataset Information

Detection of candidate nectin gene mutations in infertile men with severe teratospermia.

Publications

Detection of candidate nectin gene mutations in infertile men with severe teratospermia.

Similar Datasets

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