VOLUME 2 - NUMBER 1 - 2020

Mitochondrial DNA diseases: preimplantation diagnosis and intervention possibilities


  • Marta Alexandra Martins De Carvalho, Ana Teresa Moreira De Almeida Santos
  • Short Review, 16-21
  • Full text PDF
  • Mitochondrial DNA mutations are exclusively maternally inherited and can cause severe diseases for which there is no effective treatment. The recurrence risk of mitochondrial diseases is difficult to estimate due to heteroplasmy and the bottleneck effect during oogenesis. Here we review the literature on current options for preimplantation genetic diagnosis and interventions to prevent mitochondrial disease transmission.
    Preimplantation genetic diagnosis can be performed in different developmental stages of the oocyte or the zygote. Preimplantation interventions consist of nuclear transfer, a set of techniques in which the patient’s nuclear genetic material is placed in an enucleated donor cell, or genomic edition, through which the mitochondrial genome is altered. These methods are associated with technical barriers, such as ensuring the representativeness of the analysed sample when applying preimplantation genetic diagnosis, maintaining the communication between nuclear and mitochondrial genomes when using nuclear transfer, and avoiding off-target modifications when genome edition is the choice.
    Although much has already been accomplished, further research is required to reduce the risk to the offspring and to develop more efficient and safer techniques.

  • KEY WORDS: DNA, Mitochondrial; Mitochondrial Diseases; Preimplantation Genetic Diagnosis; Reproductive Techniques, Assisted; Gene Editing.