Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress.

Blood cells, molecules & diseases 2022 Nov

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Diamond-Blackfan anemia (DBA) is predominantly underlined by mutations in genes encoding ribosomal proteins (RP); however, its etiology remains unexplained in approximately 25 % of patients. We previously reported a novel heterozygous RPS7 mutation hg38 chr2:g.3,580,153G > T p.V134F in one female patient and two asymptomatic family members, in whom mild anemia and increased erythrocyte adenosine deaminase (eADA) activity were detected. We observed that altered erythrocyte metabolism and oxidative stress which may negatively affect the lifespan of erythrocytes distinguishes the patient from her asymptomatic family members. Pathogenicity of the RPS7 p.V134F mutation was extensively validated including molecular defects in protein translational activity and ribosomal stress activation in the cellular model of this variant. Copyright © 2022. Published by Elsevier Inc.

Citation

Agata Kubickova, Zuzana Maceckova, Petr Vojta, Martin Ondra, Jana Volejnikova, Pavla Koralkova, Alexandra Jungova, Ondřej Jahoda, Renata Mojzikova, Ivana Hadacova, Jaroslav Cermak, Monika Horvathova, Dagmar Pospisilova, Marian Hajduch. Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress. Blood cells, molecules & diseases. 2022 Nov;97:102690