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Mitochondrial disorders as windows into an ancient organelle

Author

Listed:
  • Scott B. Vafai

    (Center for Human Genetic Research, Massachusetts General Hospital
    Broad Institute of Harvard and Massachusetts Institute of Technology)

  • Vamsi K. Mootha

    (Center for Human Genetic Research, Massachusetts General Hospital
    Broad Institute of Harvard and Massachusetts Institute of Technology
    Harvard Medical School)

Abstract

Much of our current knowledge about mitochondria has come from studying patients who have respiratory chain disorders. These disorders comprise a large collection of individually rare syndromes, each presenting in a unique and often devastating way. In recent years, there has been great progress in defining their genetic basis, but we still know little about the cascade of events that gives rise to such diverse pathology. Here, we review these disorders and explore them in the context of a contemporary understanding of mitochondrial evolution, biochemistry and genetics. Fully deciphering their pathogenesis is a challenging next step that will inspire the development of drug treatments for rare and common diseases.

Suggested Citation

  • Scott B. Vafai & Vamsi K. Mootha, 2012. "Mitochondrial disorders as windows into an ancient organelle," Nature, Nature, vol. 491(7424), pages 374-383, November.
    • Handle: RePEc:nat:nature:v:491:y:2012:i:7424:d:10.1038_nature11707
    DOI: 10.1038/nature11707
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    Cited by:

    1. Caroline Beaudoin-Chabot & Lei Wang & Cenk Celik & Aishah Tul-Firdaus Abdul Khalid & Subhash Thalappilly & Shiyi Xu & Jhee Hong Koh & Venus Wen Xuan Lim & Ann Don Low & Guillaume Thibault, 2022. "The unfolded protein response reverses the effects of glucose on lifespan in chemically-sterilized C. elegans," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
    2. Emma Puighermanal & Marta Luna-Sánchez & Alejandro Gella & Gunter van der Walt & Andrea Urpi & María Royo & Paula Tena-Morraja & Isabella Appiah & Maria Helena de Donato & Fabien Menardy & Patrizia Bi, 2024. "Cannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models," Nature Communications, Nature, vol. 15(1), pages 1-21, December.
    3. Pedro Silva-Pinheiro & Pavel A. Nash & Lindsey Van Haute & Christian D. Mutti & Keira Turner & Michal Minczuk, 2022. "In vivo mitochondrial base editing via adeno-associated viral delivery to mouse post-mitotic tissue," Nature Communications, Nature, vol. 13(1), pages 1-9, December.
    4. Cecilia Patitucci & Juan Diego Hernández-Camacho & Elodie Vimont & Sonny Yde & Thomas Cokelaer & Thibault Chaze & Quentin Giai Gianetto & Mariette Matondo & Anastasia Gazi & Ivan Nemazanyy & David A. , 2023. "Mtfp1 ablation enhances mitochondrial respiration and protects against hepatic steatosis," Nature Communications, Nature, vol. 14(1), pages 1-21, December.
    5. Christian M Hagen & Vanessa F Gonçalves & Paula L Hedley & Jonas Bybjerg-Grauholm & Marie Bækvad-Hansen & Christine S Hansen & Jørgen K Kanters & Jimmi Nielsen & Ole Mors & Alfonso B Demur & Thomas D , 2018. "Schizophrenia-associated mt-DNA SNPs exhibit highly variable haplogroup affiliation and nuclear ancestry: Bi-genomic dependence raises major concerns for link to disease," PLOS ONE, Public Library of Science, vol. 13(12), pages 1-14, December.

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