“AIFM1 beyond cell death: An overview of this OXPHOSinducing factor in mitochondrial diseases,” an open-access review article prepared by Lena Wischhof, Enzo Scifo, Dan Ehninger and our PD-MitoQUANT PI Daniele Bano was published in eBioMedicine, part of The Lancet Discovery Science on August 18th, 2022. The research team is based at the German Center for Neurodegenerative Diseases (DZNE), in Bonn, Germany. DOI: https://doi.org/10.1016/j.ebiom.2022.104231
Summary: Apoptosis-inducing factor (AIF) is a mitochondrial intermembrane space flavoprotein with diverse functions in cellular physiology. In this regard, a large number of studies have elucidated AIF’s participation to chromatin condensation during cell death in development, cancer, cardiovascular and brain disorders. However, the discovery of rare AIFM1 mutations in patients has shifted the interest of biomedical researchers towards AIF’s contribution to pathogenic mechanisms underlying inherited AIFM1-linked metabolic diseases. The functional characterization of AIF binding partners has rapidly advanced our understanding of AIF biology within the mitochondria and beyond its widely reported role in cell death. At the present time, it is reasonable to assume that AIF contributes to cell survival by promoting biogenesis and maintenance of the mitochondrial oxidative phosphorylation (OXPHOS) system. With this review, we aim to outline the current knowledge around the vital role of AIF by primarily focusing on currently reported human diseases that have been linked to AIFM1 deficiency.