Mitochondrial Replacement Therapy
Overview
Mitochondrial replacement therapy—which first led to a healthy child's birth in 2016—aims to help parents avoid rare mitochondrial diseases passed from mother to child by eliminating a mother's faulty mitochondrial DNA. It swaps in the mitochondrial DNA of an unaffected female donor either before or after fertilization. This lab-based approach has also garnered interest for infertility, since dysfunctional mitochondria may be a factor in female infertility.
Sometimes referred to as "three-parent IVF" because it's a modified in vitro fertilization process, this reproductive technique creates an embryo by integrating genetic material from a mother, a father, and a mitochondrial DNA donor. The donor's egg is tapped for this process, but it will contain the nuclear DNA of the biological mother.
Although almost all our genes reside in the nucleus of our cells, a tiny portion—37 genes—reside in mitochondria, the powerhouse of cells, and mitochondrial DNA, or mtDNA, is almost always passed along the maternal line, from mother to offspring. There are several hundred mitochondrial diseases in which the mitochondria do not perform as expected, affecting between 1,000 and 4,000 kids in the US each year.
Healthy babies have already been born using this approach, including eight in the United Kingdom. But recent research suggests that faulty mitochondrial DNA may sometimes persist after this intervention, even if almost all the mother's mitochondrial DNA is removed. That faulty DNA, even in tiny amounts, can potentially result in babies or future generations at risk of developing severe mitochondrial diseases, including ones that are fatal or cause severe organ damage.
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