In vitro maturation of oocytes is not associated with altered deoxyribonucleic acid methylation patterns in children from in vitro fertilization or intracytoplasmic sperm injection

Pliushch, Galyna; Schneider, Eberhard; Schneider, Tamara; Hajj, Nady El; Rösner, Susanne; Strowitzki, T.; Haaf, Thomas

doi:10.1016/j.fertnstert.2014.12.096

Cited by 38 publications

(22 citation statements)

References 48 publications

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“…Consistent with earlier studies,27, 28, 29, 30, 31 individual alleles with > 50% aberrantly methylated CpGs were considered as epimutations. Table 1 presents the average EMRs of 8 TS genes (10 amplicons) in 79 BC patients (EO and HR) and 80 unaffected controls.…”

Section: Resultsmentioning

confidence: 79%

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐risk breast cancer patients

Böck

Appenzeller

Haertle

et al. 2018

Intl Journal of Cancer

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To evaluate the role of constitutive epigenetic changes in normal body cells of BRCA1/BRCA2‐mutation negative patients, we have developed a deep bisulfite sequencing assay targeting the promoter regions of 8 tumor suppressor (TS) genes (BRCA1, BRCA2, RAD51C, ATM, PTEN, TP53, MLH1, RB1) and the estrogene receptor gene (ESR1), which plays a role in tumor progression. We analyzed blood samples of two breast cancer (BC) cohorts with early onset (EO) and high risk (HR) for a heterozygous mutation, respectively, along with age‐matched controls. Methylation analysis of up to 50,000 individual DNA molecules per gene and sample allowed quantification of epimutations (alleles with >50% methylated CpGs), which are associated with epigenetic silencing. Compared to ESR1, which is representative for an average promoter, TS genes were characterized by a very low (< 1%) average methylation level and a very low mean epimutation rate (EMR; < 0.0001% to 0.1%). With exception of BRCA1, which showed an increased EMR in BC (0.31% vs. 0.06%), there was no significant difference between patients and controls. One of 36 HR BC patients exhibited a dramatically increased EMR (14.7%) in BRCA1, consistent with a disease‐causing epimutation. Approximately one third (15 of 44) EO BC patients exhibited increased rates of single CpG methylation errors in multiple TS genes. Both EO and HR BC patients exhibited global underexpression of blood TS genes. We propose that epigenetic abnormalities in normal body cells are indicative of disturbed mechanisms for maintaining low methylation and appropriate expression levels and may be associated with an increased BC risk.

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Section: Resultsmentioning

confidence: 79%

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐risk breast cancer patients

Böck

Appenzeller

Haertle

et al. 2018

Intl Journal of Cancer

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“…However, patients with oligoasthenoteratozoospermia with a partial hypomethylation of H19 presented a reduced fertilization rate following intracytoplasmic sperm injection (ICSI). A previous analysis of the methylation status of ICSI infants with a low birth weight revealed hypermethylation at the MEST gene in one of the infants included in the study (119,120).…”

Section: Dna Methylation and Male Infertilitymentioning

confidence: 87%

DNA methylation in spermatogenesis and male infertility

Cui¹,

Xuan

Wu³

et al. 2016

Experimental and Therapeutic Medicine

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Abstract. Infertility is a significant problem for human reproduction, with males and females equally affected. However, the molecular mechanisms underlying male infertility remain unclear. Spermatogenesis is a highly complex process involving mitotic cell division, meiosis cell division and spermiogenesis; during this period, unique and extensive chromatin and epigenetic modifications occur to bring about specific epigenetic profiles in spermatozoa. It has recently been suggested that the dysregulation of epigenetic modifications, in particular the methylation of sperm genomic DNA, may serve an important role in the development of numerous diseases. The present study is a comprehensive review on the topic of male infertility, aiming to elucidate the association between sperm genomic DNA methylation and poor semen quality in male infertility. In addition, the current status of the genetic and epigenetic determinants of spermatogenesis in humans is discussed. Contents1. Introduction 2. DNA methylation 3. DNA methylation and spermatogenesis 4. DNA methylation and genomic imprinting 5. DNA methylation and male infertility 6. Conclusion IntroductionEpigenetics is the study of genomic structural modifications that affect gene expression without altering the underlying nucleotide sequence (1-3). Epigenetic mechanisms involved in the regulation of gene expression include the regulation of non-coding RNA, chromatin remodeling, DNA methylation and histone modifications (4,5). Of these mechanisms, DNA methylation has been implicated in numerous biological functions, such as the development of spermatozoa and early embryos, and the repression of endogenous retrotransposons, while it also has a wide range of effects in gene expression (2,3,6). The dysregulation of DNA methylation has previously been associated with various human disorders, and has been shown to increase the risk of fertilization failure, dysfunction in embryogenesis, perinatal mortality, congenital abnormalities, preterm birth and low birth weight (7-11). The present review assesses the significance of DNA methylation in spermatogenesis in order to elucidate the association between the dysregulation of DNA methylation and male infertility. This may provide a basis for the prevention and treatment of male infertility, as well as permit the evaluation of the epigenetic quality of sperm in order to reduce the risk of epigenetic diseases in cases where conception is performed by assisted reproductive technology (ART). DNA methylationEpigenetic mechanisms are critical regulators of gene expression during spermatogenesis that may influence male fertility (12-14). Cytosine, a key DNA base, is methylated at the position, typically in the context of CpG dinucleotides. The methylation of constitutive heterochromatic and promoter regions is generally associated with reduced gene transcription (Fig. 1A) (15-18). Therefore, DNA methylation is a type of epigenetic modification that can effectively promote gene silencing (Fig. 1B). The methyl group for this chemical modif...

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“…In terms of epigenetics, a study has reported that IVM exerts no significant effect on the methylation level of maternal imprinted genes, such as LIT1, SNRPN, PEG3, and GTL2, in human oocytes [42]. After an imprinted gene examination was carried out for infant chorionic cells and cord blood obtained from IVM and a standard stimulation protocol, no significant difference was observed between the two methods [43,44]. Currently, the follow-up of IVM-aided pregnancies shows that the IVM technique does not increase the risk of pregnancy, the rate of maternal complications, and the rate of neonatal abnormalities [45,46].…”

Section: Clinical Application and Safety Of Ivmmentioning

confidence: 99%

Clinical Application of In Vitro Maturation of Oocytes

La¹,

Zhao²,

Wang³

2019

Embryology - Theory and Practice

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In vitro maturation (IVM) is a technique used to induce immature oocytes collected in different periods of embryonic growth. The rates vary for immature oocytes collected from different clinical sources to potentially develop into embryos and achieve live birth. As an effective treatment method, IVM can be used to treat patients with polycystic ovary syndrome (PCOS), ovarian hyperresponsiveness, and hyporesponsiveness, as well as to preserve the fertility of cancer patients. This technology has been used worldwide for the birth of thousands of healthy babies. The improvement in clinical IVM technology mainly focuses on the IVM medium and the optimization of the culture environment and operation process. At present, with the improvement in the in vitro fertilization (IVF) efficiency and culture systems, a natural cycle or mild stimulation may be more suitable for women receiving IVF treatments. A new treatment option was proposed to combine natural cycle/ mild stimulation IVF with IVM. In particular, the combination of mild stimulation IVF and IVM is not only expected to become a viable alternative to current standard treatments but may also become a potential option of first-line treatment.

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In vitro maturation of oocytes is not associated with altered deoxyribonucleic acid methylation patterns in children from in vitro fertilization or intracytoplasmic sperm injection

Abstract: IVM-induced epigenetic changes in offspring, if any, are relatively small in magnitude and/or infrequent.

Cited by 38 publications

References 48 publications

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐risk breast cancer patients

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐risk breast cancer patients

DNA methylation in spermatogenesis and male infertility

Clinical Application of In Vitro Maturation of Oocytes

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