University of Oulu

Kastaniotis, A. J., Autio, K. J., & R. Nair, R. (2020). Mitochondrial Fatty Acids and Neurodegenerative Disorders. The Neuroscientist.

Mitochondrial fatty acids and neurodegenerative disorders

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Author: Kastaniotis, Alexander J.1; Autio, Kaija J.1; Nair, Remya R.2
Organizations: 1Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland
2Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire, UK
Format: article
Version: accepted version
Access: open
Online Access: PDF Full Text (PDF, 1.2 MB)
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Language: English
Published: SAGE Publications, 2021
Publish Date: 2021-03-08


Fatty acids in mitochondria, in sensu stricto, arise either as β-oxidation substrates imported via the carnitine shuttle or through de novo synthesis by the mitochondrial fatty acid synthesis (mtFAS) pathway. Defects in mtFAS or processes involved in the generation of the mtFAS product derivative lipoic acid (LA), including iron-sulfur cluster synthesis required for functional LA synthase, have emerged only recently as etiology for neurodegenerative disease. Intriguingly, mtFAS deficiencies very specifically affect CNS function, while LA synthesis and attachment defects have a pleiotropic presentation beyond neurodegeneration. Typical mtFAS defect presentations include optical atrophy, as well as basal ganglia defects associated with dystonia. The phenotype display of patients with mtFAS defects can resemble the presentation of disorders associated with coenzyme A (CoA) synthesis. A recent publication links these processes together based on the requirement of CoA for acyl carrier protein maturation. MtFAS defects, CoA synthesis- as well as Fe-S cluster-deficiencies share lack of LA as a common symptom.

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Series: Neuroscientist
ISSN: 1073-8584
ISSN-E: 1089-4098
ISSN-L: 1073-8584
Volume: Online First
DOI: 10.1177/1073858420936162
Type of Publication: A2 Review article in a scientific journal
Field of Science: 3112 Neurosciences
Funding: The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by the Academy of Finland (Grant Number 314925) and the Sigrid Juselius Foundation.
Academy of Finland Grant Number: 314925
Detailed Information: 314925 (Academy of Finland Funding decision)
Copyright information: © The Author(s) 2020. Reprinted by permission of SAGE Publications. The final authenticated version is available online at