Molecular Insights into Mitochondrial Protein Translocation and Human Disease

In human mitochondria, mtDNA encodes for only 13 proteins, all components of the OXPHOS system. The rest of the mitochondrial components, which make up approximately 99% of its proteome, are encoded in the nuclear genome, synthesized in cytosolic ribosomes and imported into mitochondria. Different import machineries translocate mitochondrial precursors, depending on their nature and the final destination inside the organelle. The proper and coordinated function of these molecular pathways is critical for mitochondrial homeostasis. Here, we will review molecular details about these pathways, which components have been linked to human disease and future perspectives on the field to expand the genetic landscape of mitochondrial diseases.

Automated summary

In human mitochondria, mtDNA encodes a small fraction of proteins while the majority are encoded by the nuclear genome and imported into mitochondria through various import machineries. Proper coordination of these molecular pathways is crucial for mitochondrial homeostasis. Studying these pathways is important for understanding and expanding the genetic landscape of mitochondrial diseases.