Peer Reviewed

1

Document Type

Article

Publication Date

1-4-2018

Keywords

Animals, Apoptosis Inducing Factor, Cell Respiration, Disease, Humans, Mitochondria, Mutation

Comments

The original article is available at https://www.sciencedirect.com/

Abstract

Apoptosis-inducing factor (AIF) is a mitochondrial oxidoreductase that contributes to cell death programmes and participates in the assembly of the respiratory chain. Importantly, AIF deficiency leads to severe mitochondrial dysfunction, causing muscle atrophy and neurodegeneration in model organisms as well as in humans. The purpose of this review is to describe functions of AIF and AIF-interacting proteins as regulators of cell death and mitochondrial bioenergetics. We describe how AIF deficiency induces pathogenic processes that alter metabolism and ultimately compromise cellular homeostasis. We report the currently known AIFM1 mutations identified in humans and discuss the variability of AIFM1-related disorders in terms of onset, organ involvement and symptoms. Finally, we summarize how the study of AIFM1-linked pathologies may help to further expand our understanding of rare inherited forms of mitochondrial diseases.

Disciplines

Physics | Physiology

Citation

Bano D, Prehn JHM. Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer. EBioMedicine. 2018; 30:29-37

PubMed ID

29605508

DOI Link

https://doi.org/10.1016/j.ebiom.2018.03.016

Creative Commons License

Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

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