{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T18:26:48Z","timestamp":1791052008875,"version":"4.1.0"},"reference-count":44,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Heart Failure"],"published-print":{"date-parts":[[2009,7]]},"abstract":"<jats:p>\n            <jats:bold>\n              <jats:italic>Background\u2014<\/jats:italic>\n            <\/jats:bold>\n            Mutations in myofilament proteins, most commonly\n            <jats:italic>MYBPC3<\/jats:italic>\n            -encoded myosin-binding protein C and\n            <jats:italic>MYH7<\/jats:italic>\n            -encoded \u03b2-myosin heavy chain, can cause hypertrophic cardiomyopathy (HCM). Despite significant advances in structure-function relationships pertaining to the cardiac sarcomere, there is limited knowledge of how a mutation leads to clinical HCM. We, therefore, set out to study expression and localization of myofilament proteins in left ventricular tissue of patients with HCM.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Methods and Results\u2014<\/jats:italic>\n            <\/jats:bold>\n            Frozen surgical myectomy specimens from 47 patients with HCM were examined and genotyped for mutations involving 8 myofilament-encoding genes. Myofilament protein levels were quantified by Western blotting with localization graded from immunohistochemical staining of tissue sections. Overall, 25 of 47 (53%) patients had myofilament-HCM, including 12 with MYBPC3-HCM and 9 with MYH7-HCM. As compared with healthy heart tissue, levels of myofilament proteins were increased in patients manifesting a mutation in either gene. Patients with a frameshift mutation predicted to truncate MYBPC3 exhibited marked disturbances in protein localization as compared with missense mutations in either\n            <jats:italic>MYBPC3<\/jats:italic>\n            or\n            <jats:italic>MYH7<\/jats:italic>\n            .\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Conclusions\u2014<\/jats:italic>\n            <\/jats:bold>\n            In this first expression study in human HCM tissue, increased myofilament protein levels in patients with either\n            <jats:italic>MYBPC3<\/jats:italic>\n            - or\n            <jats:italic>MYH7-<\/jats:italic>\n            mediated HCM suggest a poison peptide mechanism. Specifically, the mechanism of dysfunction may vary according to the genetic subgroup suggested by a distinctly abnormal distribution of myofilament proteins in patients manifesting a truncation mutation in\n            <jats:italic>MYBPC3<\/jats:italic>\n            .\n          <\/jats:p>","DOI":"10.1161\/circheartfailure.108.789735","type":"journal-article","created":{"date-parts":[[2009,5,14]],"date-time":"2009-05-14T00:34:03Z","timestamp":1242261243000},"page":"325-333","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":31,"title":["Expression Patterns of Cardiac Myofilament Proteins"],"prefix":"10.1161","volume":"2","author":[{"given":"Jeanne L.","family":"Theis","sequence":"first","affiliation":[{"name":"From the Departments of Molecular Pharmacology and Experimental Therapeutics (J.L.T., M.J.A.), Medicine\/Division of Cardiovascular Diseases (J.M.B., B.G., S.R.O., M.J.A.), Laboratory Medicine and Pathology\/Division of Anatomic Pathology (J.D.T., D.W.M.), Surgery\/Division of Cardiothoracic Surgery (J.A.D., H.V.S.), Pediatrics\/Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, Minn; and Department of Physiology\/Cardiovascular Research Center (R.L.M.), University of Wisconsin School of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Martijn","family":"Bos","sequence":"additional","affiliation":[{"name":"From the Departments of Molecular Pharmacology and Experimental Therapeutics (J.L.T., M.J.A.), Medicine\/Division of Cardiovascular Diseases (J.M.B., B.G., S.R.O., M.J.A.), Laboratory Medicine and Pathology\/Division of Anatomic Pathology (J.D.T., D.W.M.), Surgery\/Division of Cardiothoracic Surgery (J.A.D., H.V.S.), Pediatrics\/Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, Minn; and Department of Physiology\/Cardiovascular Research Center (R.L.M.), University of Wisconsin School of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason D.","family":"Theis","sequence":"additional","affiliation":[{"name":"From the Departments of Molecular Pharmacology and Experimental Therapeutics (J.L.T., M.J.A.), Medicine\/Division of Cardiovascular Diseases (J.M.B., B.G., S.R.O., M.J.A.), Laboratory Medicine and Pathology\/Division of Anatomic Pathology (J.D.T., D.W.M.), Surgery\/Division of Cardiothoracic Surgery (J.A.D., H.V.S.), Pediatrics\/Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, Minn; and Department of Physiology\/Cardiovascular Research Center (R.L.M.), University of Wisconsin School of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dylan V.","family":"Miller","sequence":"additional","affiliation":[{"name":"From the Departments of Molecular Pharmacology and Experimental Therapeutics (J.L.T., M.J.A.), Medicine\/Division of Cardiovascular Diseases (J.M.B., B.G., S.R.O., M.J.A.), Laboratory Medicine and Pathology\/Division of Anatomic Pathology (J.D.T., D.W.M.), Surgery\/Division of Cardiothoracic Surgery (J.A.D., H.V.S.), Pediatrics\/Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, Minn; and Department of Physiology\/Cardiovascular Research Center (R.L.M.), University of Wisconsin School of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph A.","family":"Dearani","sequence":"additional","affiliation":[{"name":"From the Departments of Molecular Pharmacology and Experimental Therapeutics (J.L.T., M.J.A.), Medicine\/Division of Cardiovascular Diseases (J.M.B., B.G., S.R.O., M.J.A.), Laboratory Medicine and Pathology\/Division of Anatomic Pathology (J.D.T., D.W.M.), Surgery\/Division of Cardiothoracic Surgery (J.A.D., H.V.S.), Pediatrics\/Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, Minn; and Department of Physiology\/Cardiovascular Research Center (R.L.M.), University of Wisconsin School of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartzell V.","family":"Schaff","sequence":"additional","affiliation":[{"name":"From the Departments of Molecular Pharmacology and Experimental Therapeutics (J.L.T., M.J.A.), Medicine\/Division of Cardiovascular Diseases (J.M.B., B.G., S.R.O., M.J.A.), Laboratory Medicine and Pathology\/Division of Anatomic Pathology (J.D.T., D.W.M.), Surgery\/Division of Cardiothoracic Surgery (J.A.D., H.V.S.), Pediatrics\/Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, Minn; and Department of Physiology\/Cardiovascular Research Center (R.L.M.), University of Wisconsin School of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard J.","family":"Gersh","sequence":"additional","affiliation":[{"name":"From the Departments of Molecular Pharmacology and Experimental Therapeutics (J.L.T., M.J.A.), Medicine\/Division of Cardiovascular Diseases (J.M.B., B.G., S.R.O., M.J.A.), Laboratory Medicine and Pathology\/Division of Anatomic Pathology (J.D.T., D.W.M.), Surgery\/Division of Cardiothoracic Surgery (J.A.D., H.V.S.), Pediatrics\/Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, Minn; and Department of Physiology\/Cardiovascular Research Center (R.L.M.), University of Wisconsin School of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve R.","family":"Ommen","sequence":"additional","affiliation":[{"name":"From the Departments of Molecular Pharmacology and Experimental Therapeutics (J.L.T., M.J.A.), Medicine\/Division of Cardiovascular Diseases (J.M.B., B.G., S.R.O., M.J.A.), Laboratory Medicine and Pathology\/Division of Anatomic Pathology (J.D.T., D.W.M.), Surgery\/Division of Cardiothoracic Surgery (J.A.D., H.V.S.), Pediatrics\/Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, Minn; and Department of Physiology\/Cardiovascular Research Center (R.L.M.), University of Wisconsin School of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard L.","family":"Moss","sequence":"additional","affiliation":[{"name":"From the Departments of Molecular Pharmacology and Experimental Therapeutics (J.L.T., M.J.A.), Medicine\/Division of Cardiovascular Diseases (J.M.B., B.G., S.R.O., M.J.A.), Laboratory Medicine and Pathology\/Division of Anatomic Pathology (J.D.T., D.W.M.), Surgery\/Division of Cardiothoracic Surgery (J.A.D., H.V.S.), Pediatrics\/Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, Minn; and Department of Physiology\/Cardiovascular Research Center (R.L.M.), University of Wisconsin School of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Ackerman","sequence":"additional","affiliation":[{"name":"From the Departments of Molecular Pharmacology and Experimental Therapeutics (J.L.T., M.J.A.), Medicine\/Division of Cardiovascular Diseases (J.M.B., B.G., S.R.O., M.J.A.), Laboratory Medicine and Pathology\/Division of Anatomic Pathology (J.D.T., D.W.M.), Surgery\/Division of Cardiothoracic Surgery (J.A.D., H.V.S.), Pediatrics\/Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, Minn; and Department of Physiology\/Cardiovascular Research Center (R.L.M.), University of Wisconsin School of..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.287.10.1308"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncpcardio1110"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0214571"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa033349"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.0000056522.82563.5f"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2004.08.058"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.04.151"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.10.119"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2007.04.006"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.4065\/80.4.463"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.res.0000127175.21818.c2"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1161\/res.86.1.51"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.17.8999"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0764-4469(00)01292-0"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1999.3276"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2004.07.045"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199804303381802"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(01)01387-0"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.res.0000012222.70819.64"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.4065\/81.4.459"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI3880"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1161\/res.85.9.841"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5262.731"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI7956"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardiores.2003.07.001"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI4631"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1998.2522"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardiores.2004.04.009"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1161\/res.88.4.383"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI7377"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.res.0000036750.81083.83"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2006.12.008"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.040329"},{"key":"e_1_3_2_34_2","first-page":"2662","volume":"143","year":"2007","unstructured":"Xin B, Puffenberger E, Tumbush J, Bockoven JR, Wang H. 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