| Autor: |
Yanwei Sha, Wensheng Liu, Xianjing Huang, Yang Li, Zhiyong Ji, Libin Mei, Shaobin Lin, Shuangbo Kong, Jinhua Lu, Lingyuan Kong, Xingshen Zhu, Zhongxian Lu, Lu Ding |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
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| Zdroj: |
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019) |
| Druh dokumentu: |
article |
| ISSN: |
2324-9269 |
| DOI: |
10.1002/mgg3.807 |
| Popis: |
Abstract Background Asthenozoospermia (AZS), also known as asthenospermia, is characterized by reduced motility of ejaculated spermatozoa and is detected in more than 40% of infertile patients. Because the proportion of progressive spermatozoa in severe AZS is T: p.(Pro841Ser) (NC_000003.11: g.184043412C>T) in exon13 and c.2957C>G: p.(Ala986Gly) (NC_000003.11: g.184045117C>G) in exon17 in the eukaryotic translation initiation factor 4 gamma 1 gene (EIF4G1, RefSeq: NM_004953.4, OMIM: 600495) of the patient. Both of the mutation sites are rare and potentially deleterious. Transmission electron microscopy analysis showed a disrupted axonemal structure with mitochondrial sheath defects. The EIF4G1 protein level was extremely low, and the mitochondrial marker cytochrome c oxidase subunit 4I1 (COXIV, OMIM: 123864) and mitochondrially encoded ATP synthase 6 (ATP6, OMIM: 516060) protein levels were also decreased in the patient's spermatozoa as revealed by WB and IF analysis. This infertility associated with this condition was overcome by intracytoplasmic sperm injections, as his wife became pregnant successfully. Conclusion Our experimental findings indicate that the EIF4G1 gene is a novel candidate gene that may be relevant to severe AZS. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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