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Updated: Aug 14, 2026

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model
Published on: March 9, 2022
Making mitochondrial mutants
1Institute of Medical Technology and Tampere University Hospital, FIN-33014 University of Tampere, Tampere, Finland. howy.jacobs@uta.fi
Abstract:
Mitochondrial DNA (mtDNA) encodes a mere 13 polypeptides, all with well-defined cellular functions in mitochondrial energy metabolism. It was first sequenced over two decades ago, yet our understanding of the wider physiological role of mtDNA is surprisingly sketchy. Partly, this reflects the fact that the mitochondrial gene products are essential for life; that is, most mtDNA mutations are expected to be lethal. The technical difficulty of engineering mtDNA mutations has been a major handicap in furthering our understanding of the mitochondrial genetic system. Recent developments now offer some possibilities for the genetic manipulation of mtDNA and for elucidating its contribution to human development, physiology and disease.
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