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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Monitoring Blood Glucose in Mouse Offspring After Intracytoplasmic Sperm Injection
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Published on: May 17, 2024

Imprinting disorders and assisted reproductive technology.

Somjate Manipalviratn1, Alan DeCherney, James Segars

  • 1Reproductive Biology and Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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Summary

Assisted reproductive technology (ART) may be linked to imprinting disorders like Beckwith-Wiedemann syndrome and Angelman syndrome, particularly in children with imprinting defects. However, routine screening is not recommended due to low incidence.

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Area of Science:

  • Reproductive Medicine
  • Epigenetics
  • Pediatric Genetics

Background:

  • Imprinting disorders, including Beckwith-Wiedemann syndrome (BWS), Angelman syndrome (AS), and retinoblastoma, are associated with epigenetic alterations.
  • Assisted reproductive technology (ART) involves procedures like in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI).
  • In vitro embryo culture has shown potential to alter gene imprinting in animal studies.

Purpose of the Study:

  • To review existing literature on the association between imprinting disorders (BWS, AS, retinoblastoma) and ART in humans.
  • To synthesize findings on epigenetic defects in children conceived via ART.

Main Methods:

  • Literature search of publications from July 1978 to February 2008 using PubMed, Medline, and EMBASE.
  • Included studies on imprinting/epigenetic disorders (BWS, AS, retinoblastoma) in conjunction with ART.
  • Focused on outcomes of ART, including IVF and ICSI.

Main Results:

  • Evidence suggests a potential association between ART and BWS, with over 90% of ART-conceived BWS cases showing imprinting defects.
  • Reports indicate a possible link between ART and AS, often involving loss of methylation in the maternal allele.
  • A single report suggested an increased incidence of retinoblastoma in children conceived via ART.

Conclusions:

  • The absolute incidence of imprinting disorders is low (<1:12,000 births).
  • Routine screening for imprinting disorders in children conceived by ART is not currently recommended.
  • Further large cohort studies are necessary to definitively establish or refute an association between ART and imprinting disorders.