학술논문
Proteomic and phosphoproteomic analyses of myectomy tissue reveals difference between sarcomeric and genotype-negative hypertrophic cardiomyopathy.
Document Type
Academic Journal
Author
Garmany R; Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic Alix School of Medicine and the Mayo Clinic Medical Scientist Training Program, Rochester, MN, USA.; Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.; Bos JM; Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.; Department of Cardiovascular Medicine, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochester, MN, USA.; Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, USA.; Dasari S; Department of Quantitative Health Sciences/Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.; Johnson KL; Proteomics Core, Mayo Clinic, Rochester, MN, USA.; Tester DJ; Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.; Giudicessi JR; Department of Cardiovascular Medicine, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochester, MN, USA.; Dos Remedios C; Mechanobiology Laboratory, Victor Chang Cardiac Research Institute, Darlinghurst, Australia.; Maleszewski JJ; Department of Cardiovascular Medicine, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Ommen SR; Department of Cardiovascular Medicine, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochester, MN, USA.; Dearani JA; Department of Cardiovascular Surgery, Mayo Clinic, Rochester, MN, USA.; Ackerman MJ; Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA. ackerman.michael@mayo.edu.; Department of Cardiovascular Medicine, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochester, MN, USA. ackerman.michael@mayo.edu.; Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, USA. ackerman.michael@mayo.edu.; Mayo Clinic Windland Smith Rice Genetic Heart Rhythm Clinic and Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Guggenheim 501, 200 First Street SW, Rochester, MN, 55905, USA. ackerman.michael@mayo.edu.
Source
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Subject
Language
English
Abstract
Hypertrophic cardiomyopathy (HCM) is a genetically heterogenous condition with about half of cases remaining genetically elusive or non-genetic in origin. HCM patients with a positive genetic test (HCM Sarc ) present earlier and with more severe disease than those with a negative genetic test (HCM Neg ). We hypothesized these differences may be due to and/or reflect proteomic and phosphoproteomic differences between the two groups. TMT-labeled mass spectrometry was performed on 15 HCM Sarc , 8 HCM Neg , and 7 control samples. There were 243 proteins differentially expressed and 257 proteins differentially phosphorylated between HCM Sarc and HCM Neg . About 90% of pathways altered between genotypes were in disease-related pathways and HCM Sarc showed enhanced proteomic and phosphoproteomic alterations in these pathways. Thus, we show HCM Sarc has enhanced proteomic and phosphoproteomic dysregulation observed which may contribute to the more severe disease phenotype.
(© 2023. Springer Nature Limited.)
(© 2023. Springer Nature Limited.)