Sperm DNA methylation of H19 imprinted gene and male infertility

Andrologia ◽  
2017 ◽  
Vol 49 (10) ◽  
pp. e12766 ◽  
Author(s):  
F. Nasri ◽  
B. Gharesi-Fard ◽  
B. Namavar Jahromi ◽  
M. A. Farazi-fard ◽  
M. Banaei ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Male Infertility ◽  
Imprinted Gene ◽  
Sperm Dna ◽  
Sperm Dna Methylation

scholarly journals Impairment of sperm DNA methylation in male infertility: a meta-analytic study

Andrology ◽  
2017 ◽  
Vol 5 (4) ◽  
pp. 695-703 ◽  
Author(s):  
D. Santi ◽  
S. De Vincentis ◽  
E. Magnani ◽  
G. Spaggiari
Keyword(s):  
Dna Methylation ◽  
Male Infertility ◽  
Analytic Study ◽  
Sperm Dna ◽  
Sperm Dna Methylation

scholarly journals Sperm DNA Methylation Epimutation Biomarkers for Male Infertility and FSH Therapeutic Responsiveness

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Saturnino Luján ◽  
Ettore Caroppo ◽  
Craig Niederberger ◽  
Joan-Carles Arce ◽  
Ingrid Sadler-Riggleman ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Male Infertility ◽  
Sperm Quality ◽  
Therapeutic Treatment ◽  
Idiopathic Infertility ◽  
Epigenetic Biomarkers ◽  
Genome Wide ◽  
Sperm Dna ◽  
Infertility Patients ◽  
Sperm Dna Methylation

AbstractMale factor infertility is increasing and recognized as playing a key role in reproductive health and disease. The current primary diagnostic approach is to assess sperm quality associated with reduced sperm number and motility, which has been historically of limited success in separating fertile from infertile males. The current study was designed to develop a molecular analysis to identify male idiopathic infertility using genome wide alterations in sperm DNA methylation. A signature of differential DNA methylation regions (DMRs) was identified to be associated with male idiopathic infertility patients. A promising therapeutic treatment of male infertility is the use of follicle stimulating hormone (FSH) analogs which improved sperm numbers and motility in a sub-population of infertility patients. The current study also identified genome-wide DMRs that were associated with the patients that were responsive to FSH therapy versus those that were non-responsive. This novel use of epigenetic biomarkers to identify responsive versus non-responsive patient populations is anticipated to dramatically improve clinical trials and facilitate therapeutic treatment of male infertility patients. The use of epigenetic biomarkers for disease and therapeutic responsiveness is anticipated to be applicable for other medical conditions.

scholarly journals Epigenetics of Male Infertility: The Role of DNA Methylation

2021 ◽  
Vol 9 ◽  
Author(s):  
John Charles Rotondo ◽  
Carmen Lanzillotti ◽  
Chiara Mazziotta ◽  
Mauro Tognon ◽  
Fernanda Martini
Keyword(s):  
Dna Methylation ◽  
Male Infertility ◽  
Methylation Status ◽  
Reproductive Potential ◽  
Diagnostic Tools ◽  
Imprinted Genes ◽  
Genome Methylation ◽  
Sperm Dna ◽  
Sperm Dna Methylation

In recent years, a number of studies focused on the role of epigenetics, including DNA methylation, in spermatogenesis and male infertility. We aimed to provide an overview of the knowledge concerning the gene and genome methylation and its regulation during spermatogenesis, specifically in the context of male infertility etiopathogenesis. Overall, the findings support the hypothesis that sperm DNA methylation is associated with sperm alterations and infertility. Several genes have been found to be differentially methylated in relation to impaired spermatogenesis and/or reproductive dysfunction. Particularly, DNA methylation defects of MEST and H19 within imprinted genes and MTHFR within non-imprinted genes have been repeatedly linked with male infertility. A deep knowledge of sperm DNA methylation status in association with reduced reproductive potential could improve the development of novel diagnostic tools for this disease. Further studies are needed to better elucidate the mechanisms affecting methylation in sperm and their impact on male infertility.

scholarly journals Early-Life Exposure to Environmental Contaminants Perturbs the Sperm Epigenome and Induces Negative Pregnancy Outcomes for Three Generations via the Paternal Lineage

Epigenomes ◽  
2021 ◽  
Vol 5 (2) ◽  
pp. 10
Author(s):  
Clotilde Maurice ◽  
Mathieu Dalvai ◽  
Romain Lambrot ◽  
Astrid Deschênes ◽  
Marie-Pier Scott-Boyer ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Pregnancy Outcomes ◽  
Sperm Quality ◽  
The Arctic ◽  
Congenital Defects ◽  
Developmental Defects ◽  
Early Life Exposure ◽  
Sperm Dna ◽  
Inuit Population ◽  
Sperm Dna Methylation

Due to the grasshopper effect, the Arctic food chain in Canada is contaminated with persistent organic pollutants (POPs) of industrial origin, including polychlorinated biphenyls and organochlorine pesticides. Exposure to POPs may be a contributor to the greater incidence of poor fetal growth, placental abnormalities, stillbirths, congenital defects and shortened lifespan in the Inuit population compared to non-Aboriginal Canadians. Although maternal exposure to POPs is well established to harm pregnancy outcomes, paternal transmission of the effects of POPs is a possibility that has not been well investigated. We used a rat model to test the hypothesis that exposure to POPs during gestation and suckling leads to developmental defects that are transmitted to subsequent generations via the male lineage. Indeed, developmental exposure to an environmentally relevant Arctic POPs mixture impaired sperm quality and pregnancy outcomes across two subsequent, unexposed generations and altered sperm DNA methylation, some of which are also observed for two additional generations. Genes corresponding to the altered sperm methylome correspond to health problems encountered in the Inuit population. These findings demonstrate that the paternal methylome is sensitive to the environment and that some perturbations persist for at least two subsequent generations. In conclusion, although many factors influence health, paternal exposure to contaminants plays a heretofore-underappreciated role with sperm DNA methylation contributing to the molecular underpinnings involved.

scholarly journals Sperm DNA methylation mediates the association of male age on reproductive outcomes among couples undergoing infertility treatment

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Oladele A. Oluwayiose ◽  
Haotian Wu ◽  
Hachem Saddiki ◽  
Brian W. Whitcomb ◽  
Laura B. Balzer ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Developed Countries ◽  
Infertility Treatment ◽  
Reproductive Outcomes ◽  
Neurodevelopmental Outcomes ◽  
Male Age ◽  
Age Related ◽  
Sperm Dna ◽  
Increased Risk ◽  
Sperm Dna Methylation

AbstractParental age at time of offspring conception is increasing in developed countries. Advanced male age is associated with decreased reproductive success and increased risk of adverse neurodevelopmental outcomes in offspring. Mechanisms for these male age effects remain unclear, but changes in sperm DNA methylation over time is one potential explanation. We assessed genome-wide methylation of sperm DNA from 47 semen samples collected from male participants of couples seeking infertility treatment. We report that higher male age was associated with lower likelihood of fertilization and live birth, and poor embryo development (p < 0.05). Furthermore, our multivariable linear models showed male age was associated with alterations in sperm methylation at 1698 CpGs and 1146 regions (q < 0.05), which were associated with > 750 genes enriched in embryonic development, behavior and neurodevelopment among others. High dimensional mediation analyses identified four genes (DEFB126, TPI1P3, PLCH2 and DLGAP2) with age-related sperm differential methylation that accounted for 64% (95% CI 0.42–0.86%; p < 0.05) of the effect of male age on lower fertilization rate. Our findings from this modest IVF population provide evidence for sperm methylation as a mechanism of age-induced poor reproductive outcomes and identifies possible candidate genes for mediating these effects.

scholarly journals Oxidative stress underlies heritable impacts of paternal cigarette smoke exposure

2019 ◽  
Author(s):  
Patrick J Murphy ◽  
Jingtao Guo ◽  
Timothy G Jenkins ◽  
Emma R James ◽  
John R Hoidal ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Gene Expression ◽  
Dna Methylation ◽  
Cigarette Smoke ◽  
Cigarette Smoke Exposure ◽  
Epigenetic Changes ◽  
Sperm Dna ◽  
Increased Risk ◽  
Paternal Smoking ◽  
Sperm Dna Methylation

SUMMARYPaternal cigarette smoke (CS) exposure is associated with increased risk of behavioral disorders and cancer in offspring, but the mechanism has not been identified. This study used mouse models to evaluate: 1) what impact paternal CS exposure has on sperm DNA methylation (DNAme), 2) whether sperm DNAme changes persist after CS exposure ends, 3) the degree to which DNAme and gene expression changes occur in offspring and 4) the mechanism underlying impacts of CS exposure. We demonstrate that CS exposure induces sperm DNAme changes that are partially corrected within 28 days of removal from CS exposure. Additionally, paternal smoking causes changes in neural DNAme and gene expression in offspring. Remarkably, the effects of CS exposure are largely recapitulated in oxidative stress-compromised Nrf2-/- mice and their offspring, independent of paternal smoking. These results demonstrate that paternal CS exposure impacts offspring phenotype and that oxidative stress underlies CS induced heritable epigenetic changes.

Alterations in sperm DNA methylation patterns at imprinted loci in two classes of infertility

2010 ◽  
Vol 94 (5) ◽  
pp. 1728-1733 ◽  
Author(s):  
Saher Sue Hammoud ◽  
Jahnvi Purwar ◽  
Christian Pflueger ◽  
Bradley R. Cairns ◽  
Douglas T. Carrell
Keyword(s):  
Dna Methylation ◽  
Sperm Dna ◽  
Methylation Patterns ◽  
Sperm Dna Methylation

scholarly journals Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort

2015 ◽  
Vol 44 (4) ◽  
pp. 1199-1210 ◽  
Author(s):  
Jason I Feinberg ◽  
Kelly M Bakulski ◽  
Andrew E Jaffe ◽  
Rakel Tryggvadottir ◽  
Shannon C Brown ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Early Signs ◽  
Sperm Dna ◽  
Sperm Dna Methylation

scholarly journals Exposure to childhood abuse is associated with human sperm DNA methylation

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Andrea L. Roberts ◽  
Nicole Gladish ◽  
Evan Gatev ◽  
Meaghan J. Jones ◽  
Ying Chen ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Childhood Abuse ◽  
Human Sperm ◽  
Sperm Dna ◽  
Sperm Dna Methylation
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