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Advances in the Understanding and Treatment of Mitochondrial Fatty Acid Oxidation Disorders

  • Clinical Genetics (D Finegold, Section Editor)
  • Published:
Current Genetic Medicine Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

This review focuses on advances made in the past 3 years with regards to understanding the mitochondrial fatty acid oxidation (FAO) pathway, the pathophysiological ramifications of genetic lesions in FAO enzymes, and emerging therapies for FAO disorders.

Recent Findings

FAO has now been recognized to play a key energetic role in pulmonary surfactant synthesis, T-cell differentiation and memory, and the response of the proximal tubule to kidney injury. Patients with FAO disorders may face defects in these cellular systems as they age. Aspirin, statins, and nutritional supplements modulate the rate of FAO under normal conditions and could be risk factors for triggering symptoms in patients with FAO disorders. Patients have been identified with mutations in the ACAD9 and ECHS1 genes, which may represent new FAO disorders. New interventions for long-chain FAODs are in clinical trials. Finally, post-translational modifications that regulate fatty acid oxidation protein activities have been characterized that represent important new therapeutic targets.

Summary

Recent research has led to a deeper understanding of FAO. New therapeutic avenues are being pursued that may ultimately cause a paradigm shift for patient care.

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  1. University of Pittsburgh, Pittsburgh, PA, USA

    Eric S. Goetzman

  2. Children’s Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA

    Eric S. Goetzman

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Goetzman, E.S. Advances in the Understanding and Treatment of Mitochondrial Fatty Acid Oxidation Disorders. Curr Genet Med Rep 5, 132–142 (2017). https://doi.org/10.1007/s40142-017-0125-6

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