Hyperhomocysteinemia in men with a reproductive history of fetal neural tube defects

Yu, Yang; Chen, Jia; Shi, Qingyang; Zhu, Yueying; Liu, Yanhong

doi:10.1097/md.0000000000013998

Cited by 14 publications

(16 citation statements)

References 18 publications

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“…The combination of genotypes MTHFR C677T and A1298C increases the likelihood of neural tube defects in the fetus, which may result in the patient developing epilepsy in childhood [3]. According to researchers, the prevalence of mutations in the gene MTHFR C677T and A1298C is 3.67%.…”

Section: Discussionmentioning

confidence: 99%

ST-elevation myocardial infarction, pulmonary embolism, and cerebral ischemic stroke in a patient with critically low levels of natural anticoagulants

Reznik

Щербакова

Borisovskaya

et al. 2020

Journal of Cardiology Cases

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This clinical case report describes the simultaneous development of an acute myocardial infarction, stroke, and a massive pulmonary thromboembolism in a 44-year-old patienta carrier of the thrombophilia gene polymorphisms: MTHFR C677T, A1298C, PAI-1 4G/5G, ITGA2 C807T. Multifocal thrombosis was probably due to the initial congenital deficiency of anticoagulants, accompanied by a decrease in antithrombin III and protein C, against the background of their critical consumption in cascade thrombosis, in combination with the carrier of polymorphisms of moderate and low thrombogenic risk. This case is unique in that there is usually a tendency toward clinical thrombosis when the level of antithrombin III is less than 70%. Such patients develop thrombosis at a younger age, and by the age of 35-40 years usually have a verified diagnosis of extremely high-risk hereditary thrombophilia. In this case, multifocal thrombosis was accompanied by critically low values of anticoagulants: antithrombin III -3.4%, and protein C -36.8%. The patient had suffered from epilepsy since childhood and took anticonvulsant drugs that increase the deficit of active folic acid and can lead to hyperhomocysteinemia, which in this case, against the background of an innate decrease in the activity of methyltetrahydrofolate reductase, could have aggravated the situation.

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Section: Discussionmentioning

confidence: 99%

ST-elevation myocardial infarction, pulmonary embolism, and cerebral ischemic stroke in a patient with critically low levels of natural anticoagulants

Reznik

Щербакова

Borisovskaya

et al. 2020

Journal of Cardiology Cases

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“…Hyper‐homocysteinaemia results from a polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene that reduces folate metabolism. This polymorphism affects sperm quality and sperm DNA methylation and might cause foetal neural tube defects (NTDs) (Yu et al., 2019). Paternal folate status or diet can influence sperm parameters, fertility and embryonic growth.…”

Section: Epigenetic Factors Affecting Sperm Maturationmentioning

confidence: 99%

The current perspective on genetic and epigenetic factors in sperm maturation in the epididymis

Ozkocer

Konac

2021

Andrologia

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Male infertility affects approximately 30% of infertile couples. As spermatozoa mature in the epididymal lumen, their potential for mobility increases, and their protein, lipid and small RNA (sRNA) content changes, whereas capacitation and fertilisation take place in the female reproductive tract. Both of the latter processes are affected by maturation, because impaired maturation causes premature capacitation and fertilization. The epididymis produces a suitable environment for sperm maturation via ion transport, vesicle secretion and protein matrix formation. The microenvironment for sperm maturation varies in three broad segments: the caput, the corpus and the cauda epididymis. Epididymosomes transfer proteins, lipids and sRNAs from the epididymal epithelium to spermatozoa and genetic alterations of epididymal genes can lead to decreased sperm motility, morphological abnormalities of spermatozoa and subfertility. Genetic factors are involved in all aetiological categories in male infertility. However, studies conducted on the genes involved in epididymal functions are limited. The sRNA content of spermatozoa changes during epididymal migration, and these sRNAs play a role in embryo development and epigenetic inheritance. This review aims to clarify the role of the epididymal epithelium in the maturation of spermatozoa in light of the current molecular genomic knowledge.

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“…It is a mandatory process in transmission of life: it is a major regulator in gametogenesis, embryo development, and growth via, but only, its role in epigenesis and imprinting mechanisms [8]. Since excess Hcy and the presence of MTHFR SNPs increase pathology risks in general [9][10][11][12], the risk of infertility at all stages pre-and postconception [13][14][15][16][17][18], the frequency of miscarriage [6,19,20], and compromised infant health [21][22][23], we have determined retrospectively the prevalence of the two main MTHFR SNPs in our population of 2970 male and female patients consulting for infertility; serum homocysteine levels were assessed in parallel.…”

Section: Introductionmentioning

confidence: 99%

MTHFR (methylenetetrahydrofolate reductase: EC 1.5.1.20) SNPs (single-nucleotide polymorphisms) and homocysteine in patients referred for investigation of fertility

Ménézo¹,

Patrizio²,

Álvarez

et al. 2021

J Assist Reprod Genet

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Purpose MTHFR, one of the major enzymes in the folate cycle, is known to acquire single-nucleotide polymorphisms that significantly reduce its activity, resulting in an increase in circulating homocysteine. Methylation processes are of crucial importance in gametogenesis, involved in the regulation of imprinting and epigenetic tags on DNA and histones. We have retrospectively assessed the prevalence of MTHFR SNPs in a population consulting for infertility according to gender and studied the impact of the mutations on circulating homocysteine levels. Methods More than 2900 patients having suffered at least two miscarriages (2 to 9) or two failed IVF/ICSI (2 to 10) attempts were included for analysis of MTHFR SNPs C677T and A1298C. Serum homocysteine levels were measured simultaneously. Results We observed no difference in the prevalence of different genetic backgrounds between men and women; only 15% of the patients were found to be wild type. More than 40% of the patients are either homozygous for one SNP or compound heterozygous carriers. As expected, the C677T SNP shows the greatest adverse effect on homocysteine accumulation. The impact of MTHFR SNPs on circulating homocysteine is different in men than in women. Conclusions Determination of MTHFR SNPs in both men and women must be seriously advocated in the presence of long-standing infertility; male gametes, from MTHFR SNPs carriers, are not exempted from exerting a hazardous impact on fertility. Patients should be informed of the pleiotropic medical implications of these SNPs for their own health, as well as for the health of future children.

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Hyperhomocysteinemia in men with a reproductive history of fetal neural tube defects

Cited by 14 publications

References 18 publications

ST-elevation myocardial infarction, pulmonary embolism, and cerebral ischemic stroke in a patient with critically low levels of natural anticoagulants

ST-elevation myocardial infarction, pulmonary embolism, and cerebral ischemic stroke in a patient with critically low levels of natural anticoagulants

The current perspective on genetic and epigenetic factors in sperm maturation in the epididymis

MTHFR (methylenetetrahydrofolate reductase: EC 1.5.1.20) SNPs (single-nucleotide polymorphisms) and homocysteine in patients referred for investigation of fertility

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