Molecular insights into mitochondrial protein translocation and human disease

Ruiz Pesini E. (Universidad de Zaragoza) ; Montoya Villarroya J. (Universidad de Zaragoza) ; Pacheu Grau D. (Universidad de Zaragoza)

Resumen: 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. © 2021 by the authors. Licensee MDPI, Basel, Switzerland.

Idioma: Inglés

DOI: 10.3390/genes12071031

Año: 2021

Publicado en: Genes 12, 7 (2021), 1031 [25 pp]
ISSN: 2073-4425

Factor impacto JCR: 4.141 (2021)

Categ. JCR: GENETICS & HEREDITY rank: 72 / 177 = 0.407 (2021) - Q2 - T2

Factor impacto CITESCORE: 5.0 - Medicine (Q2) - Biochemistry, Genetics and Molecular Biology (Q2)

Factor impacto SCIMAGO: 1.032 - Genetics (clinical) (Q2) - Genetics (Q2)

Tipo y forma: Article (Published version)

Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)