AIFM1 beyond cell death: An overview of this OXPHOS-inducing factor in mitochondrial diseases

Area of Science:

• Cellular and Molecular Biology
• Biochemistry
• Genetics

Background:

• Apoptosis-inducing factor (AIF) is a mitochondrial protein with established roles in cell death.
• Recent discoveries link AIFM1 mutations to inherited metabolic diseases.
• AIF's function extends beyond apoptosis, involving mitochondrial homeostasis.

Purpose of the Study:

• To review the current understanding of AIF's vital functions.
• To focus on human diseases associated with AIFM1 deficiency.
• To explore AIF's role in mitochondrial oxidative phosphorylation (OXPHOS).

Main Methods:

• Literature review of studies on AIF and AIFM1.
• Analysis of AIF binding partners and their functional implications.
• Examination of clinical data from patients with AIFM1-linked diseases.

Main Results:

• AIF is essential for the biogenesis and maintenance of the mitochondrial OXPHOS system.
• AIF deficiency contributes to pathogenic mechanisms in inherited metabolic diseases.
• AIF's role in cell survival is increasingly recognized.

Conclusions:

• AIF plays a critical role in cellular physiology, particularly in mitochondrial function and cell survival.
• AIFM1 deficiency underlies a spectrum of human inherited metabolic disorders.
• Further research into AIF biology is crucial for understanding and treating these diseases.