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Med Sci (Paris). 2019 Oct;35(10):779-786. doi: 10.1051/medsci/2019156. Epub 2019 Oct 18.

[Dysfunctions of mitochondrial fatty acid β-oxidation in rare and common diseases].

[Article in French; Abstract available in French from the publisher]

Author information

Centre de Recherche des Cordeliers, Inserm U1138, Sorbonne Université, USPC, Université Paris Descartes, Université Paris Diderot, 15 rue de l'École de Médecine, 75006 Paris, France.


in English, French

Dysfunctions of mitochondrial fatty acid ß-oxidation (ß-FAO) in various tissues represent a hallmark of many common disorders, and are acknowledged to play an essential role in the pathogenesis of diabetes, obesity, and cardiac diseases. Moreover, inborn defects in ß-FAO form a large family of rare diseases with variable phenotypes, ranging from fatal multi-organ failure in the newborn to isolated adult onset myopathy. These pathologies highlight the critical role of ß-FAO in many tissues with high-energy demand (heart, muscle, liver, kidney). Furthermore, and unexpectedly, very recent data unveiled the possible involvement of ß-FAO in instructing complex non energy-related functions, such as chromatin modification, control of neural stem cell activity, or survival and fate of cancer cells. Pharmacological targeting of ß-FAO by small molecules might therefore open new avenues for the treatment of various rare or common diseases.


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