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Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics
Copyright policy ) De Rocco, Daniela; Cerqua, Cristina; Goffrini, Paola; Russo, Giovanna; PASTORE, ANNALISA; Meloni, Francesca; Nicchia, Elena; +4 Authors
De Rocco, Daniela; Cerqua, Cristina; Goffrini, Paola; Russo, Giovanna; PASTORE, ANNALISA; Meloni, Francesca; Nicchia, Elena; Moraes, Carlos T.; PECCI, ALESSANDRO; Salviati, Leonardo; Savoia, Anna;
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics
Inherited thrombocytopenias are heterogeneous diseases caused by at least 20 genes playing different role in the processes of megakaryopoiesis and platelet production. Some forms, such as thrombocytopenia 4 (THC4), are very rare and not well characterized. THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene. We report a novel CYCS mutation (Y48H) in patients from an Italian family. Similar to individuals carrying G41S, they have platelets of normal size and morphology, which are only partially reduced in number, but no prolonged bleeding episodes. In order to determine the pathogenetic consequences of Y48H, we studied the effects of the two CYCS mutations in yeast and mouse cellular models. In both cases, we found reduction of respiratory level and increased apoptotic rate, supporting the pathogenetic role of CYCS in thrombocytopenia.
- Miami University United States
- University of Parma (Future Technology Lab) Italy
- National Institute for Medical Research United Kingdom
- University of Trieste Italy
- University of Parma Italy
Male, Cellular bioenergetics, DNA Mutational Analysis, Sequence Homology, Apoptosis, Mice, Apoptosis; Cellular bioenergetics; Cytochrome c; Thrombocytopenia THC4; Amino Acid Sequence; Animals; Apoptosis; Base Sequence; Cells; Cultured; Child; Preschool; Cytochromes c; DNA Mutational Analysis; Embryo; Mammalian; Energy Metabolism; Family Health; Female; Fibroblasts; Humans; Lung; Male; Mice; Molecular Sequence Data; Oxygen Consumption; Pedigree; Saccharomyces cerevisiae; Sequence Homology; Amino Acid; Thrombocytopenia; Mutation; Missense; Molecular Biology; Molecular Medicine, Child, Lung, Cells, Cultured, Cultured, Cytochromes c, Pedigree, Amino Acid, Embryo, Child, Preschool, Fibroblast, Molecular Medicine, Female, Human, piastrinopenia ereditaria, Cells, Thrombocytopenia THC4, Thrombocytopenia THC4; Apoptosis; Cytochrome c, Molecular Sequence Data, Cytochrome c, Mutation, Missense, 610, Saccharomyces cerevisiae, DNA Mutational Analysi, Oxygen Consumption, 616, citocromo c, Animals, Humans, Amino Acid Sequence, Thrombocytopenia THC, Preschool, Molecular Biology, Family Health, Base Sequence, Animal, Mammalian, Apoptosi, piastrinopenia ereditaria; citocromo c, Fibroblasts, Embryo, Mammalian, Thrombocytopenia, Mutation, Cellular bioenergetic, Missense, Energy Metabolism
Male, Cellular bioenergetics, DNA Mutational Analysis, Sequence Homology, Apoptosis, Mice, Apoptosis; Cellular bioenergetics; Cytochrome c; Thrombocytopenia THC4; Amino Acid Sequence; Animals; Apoptosis; Base Sequence; Cells; Cultured; Child; Preschool; Cytochromes c; DNA Mutational Analysis; Embryo; Mammalian; Energy Metabolism; Family Health; Female; Fibroblasts; Humans; Lung; Male; Mice; Molecular Sequence Data; Oxygen Consumption; Pedigree; Saccharomyces cerevisiae; Sequence Homology; Amino Acid; Thrombocytopenia; Mutation; Missense; Molecular Biology; Molecular Medicine, Child, Lung, Cells, Cultured, Cultured, Cytochromes c, Pedigree, Amino Acid, Embryo, Child, Preschool, Fibroblast, Molecular Medicine, Female, Human, piastrinopenia ereditaria, Cells, Thrombocytopenia THC4, Thrombocytopenia THC4; Apoptosis; Cytochrome c, Molecular Sequence Data, Cytochrome c, Mutation, Missense, 610, Saccharomyces cerevisiae, DNA Mutational Analysi, Oxygen Consumption, 616, citocromo c, Animals, Humans, Amino Acid Sequence, Thrombocytopenia THC, Preschool, Molecular Biology, Family Health, Base Sequence, Animal, Mammalian, Apoptosi, piastrinopenia ereditaria; citocromo c, Fibroblasts, Embryo, Mammalian, Thrombocytopenia, Mutation, Cellular bioenergetic, Missense, Energy Metabolism
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).69 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10% views 5 - 5views
citations
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
Citations provided by BIP!popularityPopularity provided by BIP!
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
Popularity provided by BIP!influenceInfluence provided by BIP!
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
Influence provided by BIP!impulseImpulse provided by BIP!
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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