Atpaf1, a mammalian homolog of yeast ATP11p, is a nuclear-encoded mitochondrial chaperone protein crucial for assembling the F1 sector of the F1Fo-ATP synthase [1,2]. It is involved in mitochondrial oxidative phosphorylation, a key metabolic pathway that generates ATP, the energy currency of the cell [1]. The study of genetic models, such as knockout (KO) mouse models, has been instrumental in understanding its in-vivo functions.

In Atpaf1-KO mouse models, the mice grew to adulthood but had smaller body sizes and elevated blood lactate levels later in life [1]. In the highly energy-dependent mouse heart, Atpaf1 deficiency led to decreased F1 content and ATP synthase dimers, ultrastructural mitochondrial abnormalities, impaired respiratory capacity, autophagy, and mitochondrial dynamics, ultimately resulting in decreased cardiac function [1]. This shows that Atpaf1 is essential for maintaining cardiac structure and function in animals.

In conclusion, Atpaf1 is vital for ATP synthase assembly and mitochondrial oxidative phosphorylation, playing a crucial role in maintaining normal physiological functions [1]. The Atpaf1-KO mouse models have provided valuable insights into its role in cardiac function, and further research on Atpaf1 may offer new perspectives on understanding mitochondrial-related diseases and cardiac pathologies.

References:

1. Zhou, Zhou, Zhang, Kailiang, Liu, Zhiheng, Yang, Qinglin, Long, Qinqiang. 2021. ATPAF1 deficiency impairs ATP synthase assembly and mitochondrial respiration. In Mitochondrion, 60, 129-141. doi:10.1016/j.mito.2021.08.005. https://pubmed.ncbi.nlm.nih.gov/34375736/

2. Picková, Andrea, Paul, Jan, Petruzzella, Vittoria, Houstek, Josef. . Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)-ATPase assembly proteins in mouse tissues. In FEBS letters, 551, 42-6. doi:. https://pubmed.ncbi.nlm.nih.gov/12965202/