Finding an ethical path forward for mitochondrial replacement

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Science  12 Feb 2016:
Vol. 351, Issue 6274, pp. 668-670
DOI: 10.1126/science.aaf3091

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Mitochondria are organelles found in nearly all cells in the human body and are best known for their role in regulating cellular energy balance (sometimes described as the “energy factory” of the cell). Mitochondrial DNA (mtDNA) is the only source of DNA in human cells found outside of the nucleus. The mitochondrial genome contains 37 genes (as compared with the 20,000 to 30,000 found in the nuclear genome), but pathogenic mutations in mtDNA can lead to rare, serious diseases that tend to affect organs with the highest energy demand and can be severely debilitating, progressive, and sometimes fatal in childhood (1, 2). mtDNA diseases involve extensive clinical and genetic heterogeneity, creating a challenge for estimates of prevalence. Estimates range from 1 in 200 (3) to 1 in 5000 (4) people harboring a pathogenic mtDNA mutation that may result in disease.

  • * Responsibility for the content of this article rests with the authors and does not necessarily represent the views of the Institute of Medicine (IOM), its committees, and its convening activities.

  • J. P. Kahn was chair of the IOM committee.