Phenotype of Mrps5-Associated Phylogenetic Polymorphisms Is Intimately Linked to Mitoribosomal Misreading

Juskeviciene, Reda; Fritz, Ann-Kristina; Brilkova, Margarita; Akbergenov, Rashid; Schmitt, Karen; Rehrauer, Hubert; Laczko, Endre; Isnard-Petit, Patricia; Thiam, Kader; Eckert, Anne; Schacht, Jochen; Wolfer, David P; Böttger, Erik C; Shcherbakov, Dimitri

doi:10.3390/ijms23084384

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Juskeviciene, R., Fritz, A.-K., Brilkova, M., Akbergenov, R., Schmitt, K., Rehrauer, H., Laczko, E., Isnard-Petit, P., Thiam, K., Eckert, A., Schacht, J., Wolfer, D. P., Böttger, E. C., & Shcherbakov, D. (2022). Phenotype of Mrps5-Associated Phylogenetic Polymorphisms Is Intimately Linked to Mitoribosomal Misreading. International Journal of Molecular Sciences, 23(8), 4384. https://doi.org/10.3390/ijms23084384

Abstract

We have recently identified point mutation V336Y in mitoribosomal protein Mrps5 (uS5m) as a mitoribosomal ram (ribosomal ambiguity) mutation conferring error-prone mitochondrial protein synthesis. In vivo in transgenic knock-in animals, homologous mutation V338Y was associated with a discrete phenotype including impaired mitochondrial function, anxiety-related behavioral alterations, enhanced susceptibility to noise-induced hearing damage, and accelerated metabolic aging in muscle. To challenge the postulated link between Mrps5 V338Y-