Abstract
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.
Highlights
Mitochondria are ubiquitous subcellular organelles that play essential roles in energy production, metabolism, and signal transduction
The energy generated in this oxidative phosphorylation (OXPHOS) process is utilized for the synthesis of adenosine triphosphate (ATP), which drives a multitude of necessitous reactions within all cells; especially those with high energy requirements such as neurons and myocytes [1,2,3]
This paper describes and evaluates current methods that aim to prevent the transmission of mitochondrial DNA (mtDNA) disease
Summary
Mitochondria are ubiquitous subcellular organelles that play essential roles in energy production, metabolism, and signal transduction. Mitochondrial genome organization and inheritance A unique feature of the mitochondria is that they contain their own mitochondrial DNA (mtDNA). Compared to the nuclear genome, replication of the mitochondrial genome is not tightly controlled and may occur at any stage of the cell cycle, instead of being confined to mitosis and meiosis [8,9] This results in varying mtDNA copy numbers per cell [10]. Except for a small regulatory region called the displacement loop (D-loop), the entire mitochondrial genome is comprised of coding sequences [12,13] This characteristic, compounded with the greater potential for oxidative damage and lack of any internal DNA repair mechanisms, makes mtDNA about 10 times more likely to acquire mutations compared with nuclear DNA [14]. This paper describes and evaluates current methods that aim to prevent the transmission of mtDNA disease
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