Sperm count and motility are quantitatively affected by functional polymorphisms of HTR2A , MAOA and SLC18A

Cortés-Rodríguez, Miriam; Royo, José Luis; Palomares, Arturo Reyes; Lendinez, Adrian; Ruiz-Galdón, Maximiliano; Reyes‐Engel, Armando

doi:10.1016/j.rbmo.2018.01.007

Cited by 7 publications

(2 citation statements)

References 36 publications

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“…Several neural receptors in spermatozoa have been linked with sperm function, such as acrosomal exocytosis mediated by dopamine and 5-HT receptors [137], or motility associated with purinergic [138], nicotinic [136,139], angiotensin II [140], cannabinoid [141], and olfactory receptors [142]. It is, therefore, no surprise that in idiopathic infertile men, asthenozoospermia was associated with polymorphism related to neurotransmission genes such as HTR2A, MAOA, and SLC18A1 [143].…”

Section: Hd Implications In Male Fertilitymentioning

confidence: 99%

Spermatozoan Metabolism as a Non-Traditional Model for the Study of Huntington’s Disease

Lawlor

Zigo

Kerns

et al. 2022

IJMS

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Huntington’s Disease (HD) is a fatal autosomal dominant neurodegenerative disease manifested through motor dysfunction and cognitive deficits. Decreased fertility is also observed in HD animal models and HD male patients, due to altered spermatogenesis and sperm function, thus resulting in reduced fertilization potential. Although some pharmaceuticals are currently utilized to mitigate HD symptoms, an effective treatment that remedies the pathogenesis of the disease is yet to be approved by the FDA. Identification of genes and relevant diagnostic biomarkers and therapeutic target pathways including glycolysis and mitochondrial complex-I-dependent respiration may be advantageous for early diagnosis, management, and treatment of the disease. This review addresses the HD pathway in neuronal and sperm metabolism, including relevant gene and protein expression in both neurons and spermatozoa, indicated in the pathogenesis of HD. Furthermore, zinc-containing and zinc-interacting proteins regulate and/or are regulated by zinc ion homeostasis in both neurons and spermatozoa. Therefore, this review also aims to explore the comparative role of zinc in both neuronal and sperm function. Ongoing studies aim to characterize the products of genes implicated in HD pathogenesis that are expressed in both neurons and spermatozoa to facilitate studies of future treatment avenues in HD and HD-related male infertility. The emerging link between zinc homeostasis and the HD pathway could lead to new treatments and diagnostic methods linking genetic sperm defects with somatic comorbidities.

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Section: Hd Implications In Male Fertilitymentioning

confidence: 99%

Spermatozoan Metabolism as a Non-Traditional Model for the Study of Huntington’s Disease

Lawlor

Zigo

Kerns

et al. 2022

IJMS

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“…Currently, the genetic causes of azoospermia are known to include chromosomal abnormalities, azoospermia factor (AZF) microdeletion of the Y chromosome, copy number variations (CNVs), and monogenic mitochondrial and epigenetic abnormalities [3]. Recently, associations between gene polymorphisms and male infertility have been identified [4][5][6][7]. The relationships between additional genes and abnormal spermatogenesis require further investigation.…”

Section: Introductionmentioning

confidence: 99%

Chloride Channel Accessory 4 (CLCA4) Gene Polymorphisms and Non-Obstructive Azoospermia: A Case-Control Study

Wang

Zhang

et al. 2019

Med Sci Monit

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BackgroundGenetic mechanisms are associated with male infertility, but the association with non-obstructive azoospermia (NOA) remains unclear. Mutations in the chloride channel accessory 4 (CLCA4) gene have been shown to have a role in male infertility. The aim of this study was to investigate the associations between single nucleotide polymorphisms (SNPs) of the CLCA4 gene and NOA in a Chinese Han population of Northeast China using combined targeted gene capture next-generation sequencing and bioinformatics analysis.Material/MethodsThe study group included 100 men with NOA, and there were 100 normal controls. Targeted gene capture next-generation sequencing was performed combined with bioinformatics analysis. Ten CLCA4 SNPs were screened in the cases of NOA and control subjects. The associations between SNPs and NOA were analyzed.ResultsSix SNPs, c.390C>T (rs190628533), c.1474A>G (rs2231599), c.2105C>G (rs757773924), c.2371A>T) (rs759981524), c.956G>A (rs763334876), and c.895T>C (rs79822589) were identified in the study group of cases in NOA but not in control subjects. All CLCA4 SNPs were in Hardy-Weinberg equilibrium. The allele and genotype frequencies of the six SNPs were not significantly different between the study group and the controls. Haplotype analysis showed the existence of two haplotypes, CTAGACTACG and CTCGACTACG, which showed statistical significance of 0.074, and 0.088 between cases of NOA and the controls, respectively.ConclusionsThere were no significant associations between CLCA4 SNPs and NOA in men in a Chinese Han population of Northeast China.

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Alteration of the metabolite interconversion enzyme in sperm and Sertoli cell of non-obstructive azoospermia: a microarray data and in-silico analysis

Hashemi Karoii,

Baghaei,

Abroudi

et al. 2024

Sci Rep

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Numerous variables that regulate the metabolism of Sertoli cells and sperm have been identified, one of which is sex steroid hormones. These hormones play a vital role in maintaining energy homeostasis, influencing the overall metabolic balance of the human body. The proper functioning of the reproductive system is closely linked to energy status, as the reproductive axis responds to metabolic signals. The aim of this study was to investigate the gene expression patterns of metabolite interconversion enzymes in testicular cells (Sertoli cells and spermatogonia) of non-obstructive azoospermia (NOA) patients, as compared to normal controls, to understand the molecular mechanisms contributing to NOA. We used microarray and bioinformatics techniques to analyze 2912 genes encoding metabolite interconversion enzymes, including methyltransferase, monooxygenase, transmembrane reductase, and phosphohydrolase, in both testicular cells and normal samples. In sperm, the upregulation of MOXD1, ACAD10, PCYT1A, ARG1, METTL6, GPLD1, MAOA, and CYP46A1 was observed, while ENTPD2, CPT1C, ADC, and CYB5B were downregulated. Similarly, in the Sertoli cells of three NOA patients, RPIA, PIK3C3, LYPLA2, CA11, MBOAT7, and HDHD2 were upregulated, while NAA25, MAN2A1, CYB561, PNPLA5, RRM2, and other genes were downregulated. Using STRING and Cytoscape, we predicted the functional and molecular interactions of these proteins and identified key hub genes. Pathway enrichment analysis highlighted significant roles for G1/S-specific transcription, pyruvate metabolism, and citric acid metabolism in sperm, and the p53 signaling pathway and folate metabolism in Sertoli cells. Additionally, Weighted Gene Co-expression Network Analysis (WGCNA) and single-cell RNA sequencing (scRNA-seq) were performed to validate these findings, revealing significant alterations in gene expression and cellular distribution in NOA patients. Together, these results provide new insights into the molecular mechanisms underlying NOA and identify potential therapeutic targets. Supplementary Information The online version contains supplementary material available at 10.1038/s41598-024-77875-9.

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Sperm count and motility are quantitatively affected by functional polymorphisms of HTR2A , MAOA and SLC18A

Cited by 7 publications

References 36 publications

Spermatozoan Metabolism as a Non-Traditional Model for the Study of Huntington’s Disease

Spermatozoan Metabolism as a Non-Traditional Model for the Study of Huntington’s Disease

Chloride Channel Accessory 4 (CLCA4) Gene Polymorphisms and Non-Obstructive Azoospermia: A Case-Control Study

Alteration of the metabolite interconversion enzyme in sperm and Sertoli cell of non-obstructive azoospermia: a microarray data and in-silico analysis

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