Analysis of the correlation of CATSPER single nucleotide polymorphisms (SNPs) with idiopathic asthenospermia

Shu, Fangpeng; Zhou, Xumin; Li, Fenxia; Lu, Daojun; Lei, Bin; Li, Qi; Yu, Yang; Yang, Xiaobo; Shi, Rong; Mao, Xiangming

doi:10.1007/s10815-015-0548-5

Cited by 13 publications

(13 citation statements)

References 23 publications

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“…A variety of causative factors lead to AS, including environment, heredity, endocrinal factors, varicocele, immunity, medicine, infection, and microelement deficiencies (Gupta et al, ; Shu et al, ). There is still no directed and effective treatment for AS because of its complex and unexplained etiology and mechanism.…”

Section: Introductionmentioning

confidence: 99%

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Metabolic and transcriptional changes in seminal plasma of asthenozoospermia patients

Chen

Wen

Deng

et al. 2020

Biomedical Chromatography

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This study was designed to investigate the metabolic and transcriptional alterations in seminal fluid caused by asthenozoospermia (AS). To address these issues, a method of metabonomics based on ultra‐performance liquid chromatography–tandem mass spectrometry (UPLC–MS/MS) and real‐time quantitative PCR (RT‐qPCR) was performed to identify some crucial biomarkers and transcription levels of the enzymes in seminal fluid. Seminal fluid samples were collected from 87 AS patients and 73 healthy males with normozoospermia. The quantitative analysis by UPLC–MS/MS showed that 19 metabolites in seminal plasma were associated with AS, and they were involved in several metabolic pathways, such as energy metabolism, purine metabolism, methionine cycle, and branched chain amino acid metabolism. Among these metabolites, the levels of citric acid, malic acid, succinic acid, and pyruvic acid, which are related to energy metabolism, were collectively reduced in the AS group, whereas the lactic acid level was enhanced. These results indicated that lesser energy source (adenosine triphosphate) was produced through the anaerobic glycolysis pathway rather than via aerobic catabolism of suger and tricarboxylic acid cycle, resulting in reduced power of sperms. Meanwhile, partial least squares discriminant analysis showed significant differences in metabolic profiles between the AS and control groups. In addition, RT‐qPCR results revealed that the expression levels of four genes encoding fructokinase citrate synthase, succinate dehydrogenase, and spermine synthase, which were related to energy metabolism, were decreased in the AS group. The 23 descriptors with differential expression in AS may be valuable for the diagnosis and sequential study on AS. These results will help highlight the role of sperm inactivity in AS pathogenesis.

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Section: Introductionmentioning

confidence: 99%

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confidence: 99%

Metabolic and transcriptional changes in seminal plasma of asthenozoospermia patients

Chen

Wen

Deng

et al. 2020

Biomedical Chromatography

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“…Many factors are related to asthenospermia, in which genetic factors are getting more and more attention. Previous studies have shown that the exonal single nucleotide polymorphism (SNP) rs1893316 in cation channel of sperm associated 1 (CATSPER1), tektin-t (R207H) gene polymorphism, prostate and testis 1 (PATE1) variant (A1423G), endothelial nitric oxide synthase (eNOS) (Glu298Asp) gene polymorphism may be associated with asthenozoospermia risk [4–7].…”

Section: Introductionmentioning

confidence: 99%

Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients

Zhu

Zhang

Liu³

et al. 2019

Bioscience Reports

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Summary: Reduced or no progressive sperm motility in the fresh ejaculate defines asthenozoospermia as one of the major causes of male infertility. The axonemal heavy chain dynein type 11 (DNAH11) gene encodes for one of the axonemal dynein heavy chain (DHC) family members and participates in assembling respiratory cilia and sperm flagella. Given the high degree of conservation of DNAH11, mutations could give rise to primary ciliary dyskinesia (PCD) and asthenozoospermia. To date, few studies have reported on the association between variants in DNAH11 and asthenozoospermia. In the present study, 87 patients with idiopathic asthenozoospermia for variants in DNAH11 were screened by using high-throughput targeted gene sequencing technology. Bioinformatics analysis was further assessed. We found compound heterozygous variants (c.9484-1 G>T, c.12428 T>C) of DNAH11 detected in 1 of 87 patients. The variant c.9484-1 G>T was confirmed as a novel virulence variant which was predicted to affect splicing by Human Splicing Finder 3.1. And c.12428 T>C was predicted to be mildly pathogenic in silico analysis. We found that DNAH11 polymorphisms display strong associations with asthenozoospermia, and may contribute to an increased risk of male infertility in Chinese patients.

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“…By scanning of current literature only one study about CatSper ion channels in human was found. This study reported a correlation between CatSper1 mutation and idiopathic asthenospermia ( 10 ).…”

Section: Discussionmentioning

confidence: 61%

“…Even by normal sperm parameters the etiology of infertility remains still unclear by more than 50% of the couples wishing to achieve pregnancy and this phenomenon is called idiopathic infertility ( 1 ). Ion channels are one of the new research topics and are considered to have an important role in the etiology of idiopathic infertility ( 10 ). It has been shown that loss of function in the ion channels may impair sperm physiology by causing abnormal capacitation, loss of hyperactivation and impaired acrosome reaction ( 1 ).…”

Section: Discussionmentioning

confidence: 99%

Ion channel gene expressions in infertile men: A case-control study

Carkci

Etem

Ozaydin

et al. 2017

IJRM

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Background: Infertility is described as not receiving pregnancy despite unprotected and regular sexual intercourse in a 1 yr period. It is detected by 15% of the couples. Male and female factor in the etiology may be detected in similar rates. Objective: The present study aims to investigate ion channel gene expression in semen samples of infertile male compared with fertile men. Materials and Methods: A total of 150 men who applied to the urology clinic due to infertility were divided into five equal groups: asthenozoospermia, oligozoospermia, oligoasthenoteratozoospermia, teratozoospermia, and normozoospermia (control). All paticipants were evaluated with Cation Channel Spermia (CatSper) 1, 2, 3, 4, Proton Voltage Gated Ion Channel1 (Hv1), Potassium Channel Subfamily U1 (KCNU1), and transmembrane protein (TMEM16A) gene expression in semen samples. Results: "CatSper1, 4, HV1, KCNU1, and TMEM16A gene expression were detected higher in the oligozoospermia group compared to the controls. CatSper1, 2, 3, 4, KCNU1, and TMEM16A gene expression in the asthenozoospermia group and CatSper1, 2, 3, 4, KCNU1, and TMEM16A gene expression in the teratozoospermia group were detected lower compared to the controls. CatSper1, 4, HV1, and TMEM16A gen expression were higher in the oligoasthenoteratozoospermia men than the controls while CatSper3 gen expression was detected as lower." Conclusion: It was detected that these ion channels have an effect on sperm progressive motility and morphology. It may be considered that mutations in these ion channels may result in infertility.

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Analysis of the correlation of CATSPER single nucleotide polymorphisms (SNPs) with idiopathic asthenospermia

Abstract: These finding will help to further elucidate the role of CATSPER1 in idiopathic asthenospermia pathogenesis.

Cited by 13 publications

References 23 publications

Metabolic and transcriptional changes in seminal plasma of asthenozoospermia patients

Metabolic and transcriptional changes in seminal plasma of asthenozoospermia patients

Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients

Ion channel gene expressions in infertile men: A case-control study

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