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Updated: Jun 5, 2026
14:45
Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency
Published on: August 6, 2014
A comprehensive gene mutation screen in men with asthenozoospermia
Liesbeth Visser1, G Henrike Westerveld, Fang Xie
1Department of Obstetrics and Gynaecology, Center for Reproductive Medicine, Amsterdam, the Netherlands.
Fertility and Sterility
|January 25, 2011
Summary
Novel genetic mutations in key sperm function genes were identified in men with asthenozoospermia. These findings suggest new genetic causes for male infertility, specifically reduced sperm motility.
Area of Science:
- Human Genetics
- Reproductive Biology
- Molecular Biology
Background:
- Asthenozoospermia, characterized by reduced sperm motility, is a significant cause of male infertility.
- Identifying genetic factors is crucial for understanding and potentially treating asthenozoospermia.
Purpose of the Study:
- To investigate novel genetic causes of isolated asthenozoospermia.
- To screen candidate genes, informed by mouse models, for mutations in affected men.
Main Methods:
- A case-control study involving thirty men with isolated asthenozoospermia.
- Screening of nine candidate genes (e.g., CATSPER1, CATSPER4, PLA2G6) for mutations.
- Analysis of gene imprinting and mutation effects using in silico and expression studies.
Main Results:
- Ten heterozygous mutations in ADCY10, AKAP4, CATSPER1, CATSPER2, CATSPER3, CATSPER4, and PLA2G6 were identified in six patients.
- Eight of these mutations showed predicted detrimental effects on protein structure or function.
- Imprinting was observed for CATSPER1 and CATSPER4 genes.
Conclusions:
- The identified mutations are potential novel genetic causes of asthenozoospermia in humans.
- These findings highlight the role of specific gene mutations in male infertility.
- Further research can explore therapeutic strategies targeting these genetic defects.
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