Evaluation of DNA methylation at imprinted DMRs in the spermatozoa of oligozoospermic men in association with MTHFR C677T genotype

Summary Altered DNA methylation has been previously identified in the spermatozoa of infertile men; however, the origins of these errors are poorly understood. DNA methylation is an epigenetic modification which is thought to play a fundamental role in male germline development. DNA methylation reac...

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Bibliographic Details
Published in:Andrology (Oxford) 2016-09, Vol.4 (5), p.825-831
Main Authors: Louie, K., Minor, A., Ng, R., Poon, K., Chow, V., Ma, S.
Format: Article
Language:English
Subjects:
Adult
Alleles
Deoxyribonucleic acid
DNA
DNA Methylation
Enzymes
Genes
Genotype
Humans
infertility
Male
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Methylenetetrahydrofolate Reductase (NADPH2) - metabolism
Oligospermia - genetics
Oligospermia - metabolism
Polymorphism
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
single nucleotide polymorphism
Sperm
sperm concentration
sperm quality
Spermatozoa - metabolism
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Summary:Summary Altered DNA methylation has been previously identified in the spermatozoa of infertile men; however, the origins of these errors are poorly understood. DNA methylation is an epigenetic modification which is thought to play a fundamental role in male germline development. DNA methylation reactions rely on the cellular availability of methyl donors, which are primarily products of folate metabolism, where a key enzyme is methylenetetrahydrofolate reductase (MTHFR). The MTHFR C677T single nucleotide polymorphism (SNP) reduces enzyme activity and may potentially alter DNA methylation processes during germline development. The objective of this study was to determine whether altered DNA methylation in spermatozoa is associated with the MTHFR C677T SNP. DNA methylation was evaluated at the H19, IG‐GTL2, and MEST imprinted differentially methylated regions in the spermatozoa of 53 men – 44 oligozoospermic men and nine fertile men with normal sperm parameters via bisulfite sequencing of sperm clones. The 44 infertile men were stratified by severity of oligozoospermia – three normal (>15 million spermatozoa/mL), eight moderate (5–15 million spermatozoa/mL), 23 severe (1–5 million spermatozoa/mL), and 10 very severe (
ISSN:2047-2919
2047-2927
DOI:10.1111/andr.12240