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

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Abstract

Dysfunctions of mitochondrial fatty acid β-oxidation (β-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 β-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 β-FAO in many tissues with high-energy demand (heart, muscle, liver, kidney). Furthermore, and unexpectedly, very recent data unveiled the possible involvement of β-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 β-FAO by small molecules might therefore open new avenues for the treatment of various rare or common diseases.

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Bastin, J., & Djouadi, F. (2019, October 1). Dysfunctions of mitochondrial fatty acid β-oxidation in rare and common diseases. Medecine/Sciences. Editions EDK. https://doi.org/10.1051/medsci/2019156

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