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Biomedicine

Replacing the cell's power plants

Nature volume 540, pages 210–211 (2016)Cite this article

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Nuclear DNA from human eggs that harbour mutations in the DNA of organelles called mitochondria has been successfully transferred to donor eggs, bringing the prospect of therapy for mitochondrial diseases a step closer. See Letter p.270

A revolution in DNA-sequencing technology in the past few years has allowed relatively easy identification of the underlying causes of many genetic diseases. However, preventing transmission of disease-causing defects remains a formidable challenge. Our cells contain two genomes — one in the nucleus and another much smaller, semi-autonomous one in organelles called mitochondria, which are essential for the production of energy. Diseases caused by mutations in mitochondrial DNA (mtDNA) affect about 1 in 5,000 people1, have an extraordinarily broad spectrum of symptoms and are currently untreatable. Kang et al.2 show on page 270 that it is possible to prevent harmful mutations in human mtDNA from being transmitted to offspring, using a mitochondrial replacement technique.

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Figure 1: Putative techniques for mitochondrial replacement.

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Authors and Affiliations

  1. Eric A. Shoubridge is in the Department of Human Genetics, Montreal Neurological Institute of McGill University, Montreal, Quebec H3A 2B4, Canada.,

    Eric A. Shoubridge

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  1. Eric A. Shoubridge
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Correspondence to Eric A. Shoubridge.

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Shoubridge, E. Replacing the cell's power plants. Nature 540, 210–211 (2016). https://doi.org/10.1038/nature20483

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