分子遺伝医学

Current Methods for the Prevention of Transmission of Mitochondrial DNA Diseases

Abstract

Kelly A Turner and Francis YM Choy

It is estimated that mitochondrial diseases affect 1 in 5,000-10,000 live births. At present, there is no cure for a mitochondrial disease and current treatments are limited to reducing symptoms and slowing disease progression. The prevention of transmission of mitochondrial diseases is of vital importance to parents with a mitochondrial disease who wish to make informed reproductive decisions. This paper provides a critical evaluation of the various established and experimental techniques involved in the prevention and treatment of mtDNA disease at the germline level, including fertilization using donor oocytes, pre-implantation genetic diagnosis, chorionic villus sampling, amniocentesis, cytoplasmic transfer, germinal vesicle transfer, pronuclear transfer, and spindle-chromosomal complex transfer; the latter two of which have been publicly endorsed by the Human Fertilisation and Embryology Authority in the UK in 2014 as being potentially useful and safe methods for the prevention of transmission of severe mtDNA diseases.