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Learning Objectives
1. Explore what we know about mitochondria and mitochondrial function, including understanding concepts of mitochondrial replication and the mitochondrial bottleneck.
2. Understand the genetic causes of mitochondrial diseases.
3. Explore and understand the concept of heteroplasmy and why this makes a difference to the expression of mtDNA disorders, and in prenatal and preimplantation genetic diagnosis
4. Review the options for avoidance of genetic mitochondrial disease including PGD, and the 3 types of mitochondrial replacement technologies ‐ Pronuclear Transfer, Maternal Spindle Transfer and Polar Body Transfer, and review and understand the potential hazards of each.
5. Appreciate and understand the technique of cytoplasmic transfer and its application in assisted reproduction
6. Take into account the ethics of each of these technologies and the international ramifications of introducing trans‐generational genetic therapies.
What do we know about mtDNA?
• mtDNA a circular molecule of 16,569 bp
• Arranged in DNA‐protein assemblies (nucleoids) composed of single or multiple copies of mtDNA
• mtDNA more susceptible to mutation that nDNA (probably due to oxidative damage and proximity to production and lack of repair mechanisms)
• Mutations in mtDNA affect function of tissues (proportional to bioenergetic demand – high in heart and brain or specific tissue e.g.eye)
• Some mutations are age related, others can be heritable
• Many mutation sites known which are associated with specific clinical syndromes
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PRECONGRESS COURSE 15 I BARCELONA, SPAIN – 1 JULY 2018 81