Erasing Mitochondrial Mutations

Researchers develop a method to selectively remove mutated mitochondrial DNA from the murine germline and single-celled mouse embryos.

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CELL, REDDY ET AL.

Mutations in mitochondrial DNA (mtDNA) can be specifically targeted and removed by transcription activator-like effector nucleases (TALENs) in murine oocytes, single-celled mouse embryos, and fused human-mouse hybrid cells, providing proof of principle for a method that could one day be used to treat certain hereditary mitochondrial disorders in people, according to a study published today (April 23) in Cell.

“It’s an extremely important step,” said Valerio Carelli of the University of Bologna, Italy. “The results are very relevant and very convincing.”

Between 1,000 and 100,000 mitochondria power each human cell. Often, mitochondria in the same cell have different genomes, or haplotypes, a condition known as heteroplasmy. Certain haplotypes include mutations that impact mitochondrial function and cause disease, particularly in energy-hungry organs such as the brain ...

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