Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

Cox, Gerald F.; Bürger, Joachim; Lip, Va; Mau, Ulrike; Sperling, Karl; Wu, Bai‐Lin; Horsthemke, Bernhard

doi:10.1086/341096

Cited by 648 publications

(425 citation statements)

References 10 publications

Supporting

Mentioning

392

Contrasting

Unclassified

Order By: Relevance

“…89,90 A number of studies report that BWS and AS cases are overrepresented in children born through ART. 42,[91][92][93][94][95] However, other studies did not find evidence for increased risk for these diseases, 96,97 and the relationship between ART and imprinting disorders remains to be established. 98,99 Recently, it was reported that the expression state of the imprinted Dlk1-Dio3 cluster on mouse chromosome 12 is often altered in iPS cells.…”

Section: Molar Pregnancy Infertility Assisted Reproductive Technolomentioning

confidence: 98%

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

Tomizawa

Sasaki

2012

J Hum Genet

View full text Add to dashboard Cite

Genomic imprinting is an epigenetic gene-marking phenomenon that occurs in the germline, whereby genes are expressed from only one of the two parental copies in embryos and adults. Imprinting is essential for normal mammalian development and its disruption can cause various developmental defects and diseases. The process of imprinting in the germline involves DNA methylation of the imprint control regions (ICRs), and resulting parental-specific methylation imprints are maintained in the zygote and act as the marks controlling imprinted gene expression. Recent studies in mice have revealed new factors involved in imprint establishment during gametogenesis and maintenance during early development. Clinical studies have identified cases of imprinting disorders where involvement of factors shared by multiple ICRs for establishment or maintenance is suspected. These include Beckwith-Wiedemann syndrome, transient neonatal diabetes, Silver-Russell syndrome and others. More severe disruptions can lead to recurrent molar pregnancy, miscarriage or infertility. Imprinting defects may also occur during assisted reproductive technology or cell reprogramming. In this review, we summarize our current knowledge on the mechanisms of imprint establishment and maintenance, and discuss the relationship with various human disorders.

show abstract

Section: Molar Pregnancy Infertility Assisted Reproductive Technolomentioning

confidence: 98%

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

Tomizawa

Sasaki

2012

J Hum Genet

View full text Add to dashboard Cite

show abstract

“…Epigenetic processes are integral in determining when and where specific genes are expressed. Alterations therefore in the epigenetic regulation of genes may lead to profound changes in phenotype (58)(59)(60) . To date, most studies on the effect of early-life nutrition on the epigenetic regulation of genes have focused on DNA methylation.…”

Section: Epigenetic Mechanisms and Regulation Of Transcriptionmentioning

confidence: 99%

Effect of maternal diet on the epigenome: implications for human metabolic disease

Lillycrop

2011

Proc. Nutr. Soc.

View full text Add to dashboard Cite

The rapid increase in the incidence of chronic non-communicable diseases over the past two decades cannot be explained solely by genetic and adult lifestyle factors. There is now considerable evidence that the fetal and early postnatal environment also strongly influences the risk of developing such diseases in later life. Human studies have shown that low birth weight is associated with an increased risk of CVD, type II diabetes, obesity and hypertension, although recent studies have shown that over-nutrition in early life can also increase susceptibility to future metabolic disease. These findings have been replicated in a variety of animal models, which have shown that both maternal under-and over-nutrition can induce persistent changes in gene expression and metabolism within the offspring. The mechanism by which the maternal nutritional environment induces such changes is beginning to be understood and involves the altered epigenetic regulation of specific genes. The demonstration of a role for altered epigenetic regulation of genes in the developmental induction of chronic diseases raises the possibility that nutritional or pharmaceutical interventions may be used to modify long-term cardio-metabolic disease risk and combat this rapid rise in chronic non-communicable diseases.Epigenetics: DNA methylation: Fetal development: CVD: ObesityThe incidence of chronic non-communicable disease has risen sharply over the last 20 years with an estimated 18 million people dying from CVD per year (1) . This rise in CVD has been amplified by a rapid rise in the rate of obesity and type II diabetes across the world, which are major risk factors for CVD. This increase in the incidence of chronic non-communicable diseases over the past two decades cannot be explained solely by genetic and adult lifestyle factors. There is now substantial evidence that the fetal and early postnatal environment strongly influences the risk of developing cardio-metabolic disease. Epidemiological studies show that a poor intra-uterine environment induced by maternal diet, placental insufficiency or endocrine factors, such as stress, induces changes in the embryo and fetus, which increase its future risk of a range of non-communicable diseases (2) . These findings have been replicated in animal models where restricted nutrition during pregnancy induces dyslipidaemia, obesity, hypertension, hyperinsulinaemia and hyperleptinaemia in the offspring (3,4) . This association between poor intrauterine growth and increased risk of disease in later life may reflect a mismatch between the future environment 'predicted' by the embryo/fetus, based on signals from the mother during gestation, and the actual environment experienced in later life (5) . The mechanism by which cues about nutrient availability in the postnatal environment are transmitted to the fetus and the process by which different, stable phenotypes are induced are beginning to be understood. A number of recent studies suggest that changes in the epigenetic regulation of genes in the embryo ...

show abstract

“…10 Use of immature sperm may also result in imprinting errors associated with disruption of normal methylation erasure and re-establishment at critical stages of development. [11][12][13] Another purported problem associated with the extraction of individual sperm is the potential use of aged epididymal sperm, which may lead to chromosomal errors. The third and most likely cause of adverse outcomes is the non-natural selection of a single sperm (ejaculated or non-ejaculated) which may lead to the passage of genetic defects that have caused the male infertility in the first place.…”

Section: Introductionmentioning

confidence: 99%

Outcomes for offspring of men having ICSI for male factor infertility

Halliday¹

2011

Asian J Androl

View full text Add to dashboard Cite

Since the introduction of intracytoplasmic sperm injection (ICSI) using single sperm isolated from testicular tissue in men with obstructive and non-obstructive azoospermia, or using ejaculated sperm in those with poor semen quality, there have been concerns that this might have adverse effects on the offspring compared to conventional in vitro fertilisation (IVF) and natural conceptions. ICSI is done for reasons other than male factor infertility, and on the whole has not been shown to have any more negative effects than those seen with IVF. There have however, been very few studies of ICSI with a focus on, or large enough numbers to examine, the specific outcomes associated with male factor infertility. From the limited information available in relation to the source of the sperm and aetiology of infertility in the presence of ICSI, there appears to be no increased risk of congenital malformations. There is, however, a small increase in both de novo and inherited chromosome abnormalities. In terms of growth and neurodevelopment, there are very few studies, and so far, no adverse outcomes have been found in young children whose fathers have a sperm defect. The origin of the sperm used in ICSI does not have a major influence on the early life outcomes for the offspring, but transgenerational and epigenetic effects remain unknown. When the male factor infertility is known or thought to be due to a Y-chromosome deletion, this information should be given to the young male offspring at a time that will ensure his own reproductive health and plans are optimized.

show abstract

Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

Cited by 648 publications

References 10 publications

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

Effect of maternal diet on the epigenome: implications for human metabolic disease

Outcomes for offspring of men having ICSI for male factor infertility

Contact Info

Product

Resources

About