Challenges Towards Establishing Germline Gene Therapy for Inherited Mitochondrial Diseases

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Abstract

Mitochondrial DNA (mtDNA) mutation is associated with serious human disorders and affects multiple organs and tissues with high-energy requirements. Since the transmission of mtDNA is complex and is not fully understood, an accurate estimation of mtDNA disease transmission by preimplantation genetic diagnosis (PGD) or by prenatal diagnosis (PND) remains challenging. Recently, nuclear transfer techniques, including maternal spindle transfer (MST), pronuclear transfer (PNT) and polar body transfer (PBT), have shown the promising results. These methods avoid the transmission of mutated mtDNA from mother to offspring, and are collectively known as the mitochondrial replacement therapy (MRT). Further, the United Kingdom Parliament approved the Human Fertilisation and Embryology Authority (HFEA) to grant licenses for experimental use of MST and PNT in humans in 2015. Thus, a new era of assisted reproductive technology (ART), in which cures can be provided at the gamete or early zygote stages, is realistically approaching. In this review, we summarize the methods and the challenges confronting the clinical application of MRT.

Original languageEnglish
Pages (from-to)89-99
Number of pages11
JournalJournal of Mammalian Ova Research
Volume33
Issue number2
DOIs
Publication statusPublished - 2016 Oct

Keywords

  • Maternal spindle transfer (MST)
  • Mitochondrial diseases
  • Mitochondrial replacement therapy (MRT)
  • Pronuclear transfer (PNT)

ASJC Scopus subject areas

  • Reproductive Medicine
  • Cell Biology

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