Wikimedia, Robert WhiteheadTaking the nuclear chromosomes of a woman carrying a mutation in her mitochondrial DNA and placing them in a donor human egg could allow her to have children that do not inherit the defective mitochondria, according to a report out today (October 24) in Nature. The technique can generate apparently normal human embryos containing less than 1 percent of the mother’s mitochondrial DNA.
“It is very exciting,” said Marni Falk, a pediatrician specializing in mitochondrial diseases at the Children’s Hospital of Philadelphia, who did not participate in the study. “The idea that you can do [chromosome] transfer to really effectively reduce the mitochondrial DNA load of the affected mother is remarkable.”
While, each human cell generally contains just one set of 46 chromosomes in its nucleus, it may contain thousands, even tens of thousands, of copies of the tiny chromosome present in each mitochondrion—the cell’s energy factories. Mitochondria are abundant in tissues with high energy demands, such as muscle and the brain. Mutated mitochondrial DNA, if present in enough copies, can cause a variety of neuromuscular symptoms such as fatigue, migraine, vision loss, muscle weakness, heart problems, and ...
