The potential risks of abnormal transmission of mtDNA through assisted reproductive technologies

Justin St John, Rhiannon Lloyd, S El Shourbagy

Research output: Contribution to journalReview article

29 Citations (Scopus)


The recent introduction of more invasive assisted reproductive techniques offers the possibility to provide a wider treatment profile to patients. However, some of these technologies are of considerable concern as they are fraught with the possible transmission of genetic abnormalities to the offspring they create. To date, much analysis of these technologies has been conducted at the chromosomal DNA level. While some analysis has been conducted on the extranuclear, mitochondrial genome (mtDNA), this has been mainly descriptive. In the vast majority of cases, it appears that mtDNA is maternally inherited. The impact that leakage of sperm mtDNA transmission might have for the offspring is discussed in the light of the recent identification of sperm mtDNA presence in a patient with mtDNA disease. The implications of introducing donor mtDNA into a recipient oocyte through both cytoplasmic and nuclear transfer are also discussed. Again, the implications for offspring survival are discussed and suggestions made as to why the techniques might provide valuable insights into mtDNA transmission, replication and transcription. In order to be confident that patients and their offspring are being offered safe treatment, it is argued that potentially some of these treatments may be of considerable benefit in the future but significant scientific research is required before these treatments can be effectively employed in the clinic.
Original languageEnglish
Pages (from-to)34-44
Number of pages11
JournalReproductive BioMedicine Online
Publication statusPublished - 1 Jan 2004


  • mitochondria
  • ICSI
  • abnormal transmission
  • human fertilization in vitro
  • assisted reproduction


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