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2 results on '"Elisa Mikus"'

1. A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients

Author

Giampaolo Morciano, Gaia Pedriali, Massimo Bonora, Rita Pavasini, Elisa Mikus, Simone Calvi, Matteo Bovolenta, Magdalena Lebiedzinska-Arciszewska, Mirko Pinotti, Alberto Albertini, Mariusz R. Wieckowski, Carlotta Giorgi, Roberto Ferrari, Lorenzo Galluzzi, Gianluca Campo, and Paolo Pinton

Subjects
cardiovascular diseases, PTP, mitochondria, reperfusion injury, glycine-rich domain, STEMI patients, Biology (General), QH301-705.5
Abstract

Summary: Preclinical models of ischemia/reperfusion injury (RI) demonstrate the deleterious effects of permeability transition pore complex (PTPC) opening in the first minutes upon revascularization of the occluded vessel. The ATP synthase c subunit (Csub) influences PTPC activity in cells, thus impacting tissue injury. A conserved glycine-rich domain in Csub is classified as critical because, when mutated, it modifies ATP synthase properties, protein interaction with the mitochondrial calcium (Ca2+) uniporter complex, and the conductance of the PTPC. Here, we document the role of a naturally occurring mutation in the Csub-encoding ATP5G1 gene at the G87 position found in two ST-segment elevation myocardial infarction (STEMI) patients and how PTPC opening is related to RI in patients affected by the same disease. We report a link between the expression of ATP5G1G87E and the response to hypoxia/reoxygenation of human cardiomyocytes, which worsen when compared to those expressing the wild-type protein, and a positive correlation between PTPC and RI.

Published
2021
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2. A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients

Author

Roberto Ferrari, Mariusz R. Wieckowski, Gaia Pedriali, Matteo Bovolenta, Magdalena Lebiedzinska-Arciszewska, Rita Pavasini, Massimo Bonora, Lorenzo Galluzzi, Alberto Albertini, Mirko Pinotti, Gianluca Campo, Giampaolo Morciano, Paolo Pinton, Elisa Mikus, Simone Calvi, and Carlotta Giorgi

Subjects
0301 basic medicine, Male, Pore complex, Gene Expression, Pharmacology, Mitochondrion, 0302 clinical medicine, Myocytes, Cardiac, Prospective Studies, STEMI patients, Biology (General), Hypoxia, ATP synthase, biology, Chemistry, glycine-rich domain, Exons, Middle Aged, Mitochondrial Proton-Translocating ATPases, reperfusion injury, mitochondria, Female, subunit c, QH301-705.5, Protein subunit, PTP, Socio-culturale, ischemia, General Biochemistry, Genetics and Molecular Biology, cardiovascular diseases, 03 medical and health sciences, medicine, Animals, Humans, ATP5G1, Uniporter, Aged, Base Sequence, Mitochondrial Permeability Transition Pore, medicine.disease, Introns, ATP synthase subunit C, Oxygen, 030104 developmental biology, Mutation, biology.protein, ST Elevation Myocardial Infarction, Calcium Channels, Reperfusion injury, 030217 neurology & neurosurgery
Abstract

Summary: Preclinical models of ischemia/reperfusion injury (RI) demonstrate the deleterious effects of permeability transition pore complex (PTPC) opening in the first minutes upon revascularization of the occluded vessel. The ATP synthase c subunit (Csub) influences PTPC activity in cells, thus impacting tissue injury. A conserved glycine-rich domain in Csub is classified as critical because, when mutated, it modifies ATP synthase properties, protein interaction with the mitochondrial calcium (Ca2+) uniporter complex, and the conductance of the PTPC. Here, we document the role of a naturally occurring mutation in the Csub-encoding ATP5G1 gene at the G87 position found in two ST-segment elevation myocardial infarction (STEMI) patients and how PTPC opening is related to RI in patients affected by the same disease. We report a link between the expression of ATP5G1G87E and the response to hypoxia/reoxygenation of human cardiomyocytes, which worsen when compared to those expressing the wild-type protein, and a positive correlation between PTPC and RI.

Published
2021

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