Accumulation and Assembly of Myosin in Hypertrophic Cardiomyopathy With the 403 Arg to Gln β-Myosin Heavy Chain Mutation
The sarcomeric proteins and organization of cardiac myofibrils appeared intact in multiple unrelated patients with hypertrophic cardiomyopathy. In two subjects demonstrating the missense mutation at position 403 (Arg to Gln) in the β-myosin heavy chain gene, total myosin and immunoreactive β-myosin...
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| Veröffentlicht in: | Circulation research 1992-12, Vol.71 (6), p.1404-1409 |
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| container_title | Circulation research |
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| creator | Vybiral, Tomas Deitiker, Philip R Roberts, Robert Epstein, Henry F |
| description | The sarcomeric proteins and organization of cardiac myofibrils appeared intact in multiple unrelated patients with hypertrophic cardiomyopathy. In two subjects demonstrating the missense mutation at position 403 (Arg to Gln) in the β-myosin heavy chain gene, total myosin and immunoreactive β-myosin heavy chain levels were similar to those found in other patients with hypertrophic cardiomyopathy and various disease control subjects. No alteration in expression of the cardiac α-myosin heavy chain gene was observed. These results are consistent with the examined myosin heavy chain mutation, permitting proper accumulation and assembly of myosin while primarily impairing contractile function. The characteristic myocyte disarray would appear likely to be a secondary consequence of the mutations. |
| doi_str_mv | 10.1161/01.RES.71.6.1404 |
| format | Article |
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In two subjects demonstrating the missense mutation at position 403 (Arg to Gln) in the β-myosin heavy chain gene, total myosin and immunoreactive β-myosin heavy chain levels were similar to those found in other patients with hypertrophic cardiomyopathy and various disease control subjects. No alteration in expression of the cardiac α-myosin heavy chain gene was observed. These results are consistent with the examined myosin heavy chain mutation, permitting proper accumulation and assembly of myosin while primarily impairing contractile function. The characteristic myocyte disarray would appear likely to be a secondary consequence of the mutations.</description><identifier>ISSN: 0009-7330</identifier><identifier>EISSN: 1524-4571</identifier><identifier>DOI: 10.1161/01.RES.71.6.1404</identifier><identifier>PMID: 1423936</identifier><identifier>CODEN: CIRUAL</identifier><language>eng</language><publisher>Hagerstown, MD: American Heart Association, Inc</publisher><subject>Adolescent ; Adult ; Aged ; Biological and medical sciences ; Cardiomyopathy, Hypertrophic - genetics ; Cardiomyopathy, Hypertrophic - metabolism ; Cardiomyopathy, Hypertrophic - physiopathology ; Child ; Female ; Fluorescent Antibody Technique ; Fundamental and applied biological sciences. Psychology ; Genes ; Heart ; Humans ; Immunoblotting ; Male ; Microscopy, Polarization ; Middle Aged ; Mutation ; Myocardial Contraction ; Myocardium - ultrastructure ; Myofibrils - physiology ; Myosins - genetics ; Myosins - metabolism ; Vertebrates: cardiovascular system</subject><ispartof>Circulation research, 1992-12, Vol.71 (6), p.1404-1409</ispartof><rights>1992 American Heart Association, Inc.</rights><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4472-6631d422be3a2b358f09362c664003b07aad3b5cf7b403373f5ec7342d19fe23</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,3674,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4467742$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1423936$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Vybiral, Tomas</creatorcontrib><creatorcontrib>Deitiker, Philip R</creatorcontrib><creatorcontrib>Roberts, Robert</creatorcontrib><creatorcontrib>Epstein, Henry F</creatorcontrib><title>Accumulation and Assembly of Myosin in Hypertrophic Cardiomyopathy With the 403 Arg to Gln β-Myosin Heavy Chain Mutation</title><title>Circulation research</title><addtitle>Circ Res</addtitle><description>The sarcomeric proteins and organization of cardiac myofibrils appeared intact in multiple unrelated patients with hypertrophic cardiomyopathy. In two subjects demonstrating the missense mutation at position 403 (Arg to Gln) in the β-myosin heavy chain gene, total myosin and immunoreactive β-myosin heavy chain levels were similar to those found in other patients with hypertrophic cardiomyopathy and various disease control subjects. No alteration in expression of the cardiac α-myosin heavy chain gene was observed. These results are consistent with the examined myosin heavy chain mutation, permitting proper accumulation and assembly of myosin while primarily impairing contractile function. The characteristic myocyte disarray would appear likely to be a secondary consequence of the mutations.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Cardiomyopathy, Hypertrophic - genetics</subject><subject>Cardiomyopathy, Hypertrophic - metabolism</subject><subject>Cardiomyopathy, Hypertrophic - physiopathology</subject><subject>Child</subject><subject>Female</subject><subject>Fluorescent Antibody Technique</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genes</subject><subject>Heart</subject><subject>Humans</subject><subject>Immunoblotting</subject><subject>Male</subject><subject>Microscopy, Polarization</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Myocardial Contraction</subject><subject>Myocardium - ultrastructure</subject><subject>Myofibrils - physiology</subject><subject>Myosins - genetics</subject><subject>Myosins - metabolism</subject><subject>Vertebrates: cardiovascular system</subject><issn>0009-7330</issn><issn>1524-4571</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkcFu1DAQhi0EKkvhzgXJB9Rbgsd2bHJcrUoXqRVSW4mj5TgOCThxsB2qvFYfpM9UL7sCySPbmn_-GX2D0HsgJYCATwTK28u7UkIpSuCEv0AbqCgveCXhJdoQQupCMkZeozcx_iQEOKP1GToDTlnNxAatW2OWcXE6DX7CemrxNkY7Nm7FvsM3q4_DhPPZr7MNKfi5Hwze6dAOflz9rFO_4u9D6nHqLeaE4W34gZPHV27CT4_FyWBv9Z8V73qd3zdL-tvsLXrVaRftu9N9ju6_XN7v9sX1t6uvu-11YTiXtBCCQcspbSzTtGHV547kwakRghPCGiK1bllTmU42uT2TrKuskYzTFurOUnaOLo62c_C_FxuTGodorHN6sn6JSmYgteB1FpKj0AQfY7CdmsMw6rAqIOoAWxFQGbaSoIQ6wM4lH07eSzPa9n_BkW7OfzzldTTadUFPZoj_ZJwLKflhRH6UPXiXbIi_3PJgg-qtdqlXeYeEEaAF1DUFmn9FDqDsGYmAlq4</recordid><startdate>199212</startdate><enddate>199212</enddate><creator>Vybiral, Tomas</creator><creator>Deitiker, Philip R</creator><creator>Roberts, Robert</creator><creator>Epstein, Henry F</creator><general>American Heart Association, Inc</general><general>Lippincott</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>199212</creationdate><title>Accumulation and Assembly of Myosin in Hypertrophic Cardiomyopathy With the 403 Arg to Gln β-Myosin Heavy Chain Mutation</title><author>Vybiral, Tomas ; Deitiker, Philip R ; Roberts, Robert ; Epstein, Henry F</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4472-6631d422be3a2b358f09362c664003b07aad3b5cf7b403373f5ec7342d19fe23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Cardiomyopathy, Hypertrophic - genetics</topic><topic>Cardiomyopathy, Hypertrophic - metabolism</topic><topic>Cardiomyopathy, Hypertrophic - physiopathology</topic><topic>Child</topic><topic>Female</topic><topic>Fluorescent Antibody Technique</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genes</topic><topic>Heart</topic><topic>Humans</topic><topic>Immunoblotting</topic><topic>Male</topic><topic>Microscopy, Polarization</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Myocardial Contraction</topic><topic>Myocardium - ultrastructure</topic><topic>Myofibrils - physiology</topic><topic>Myosins - genetics</topic><topic>Myosins - metabolism</topic><topic>Vertebrates: cardiovascular system</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vybiral, Tomas</creatorcontrib><creatorcontrib>Deitiker, Philip R</creatorcontrib><creatorcontrib>Roberts, Robert</creatorcontrib><creatorcontrib>Epstein, Henry F</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Circulation research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Vybiral, Tomas</au><au>Deitiker, Philip R</au><au>Roberts, Robert</au><au>Epstein, Henry F</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Accumulation and Assembly of Myosin in Hypertrophic Cardiomyopathy With the 403 Arg to Gln β-Myosin Heavy Chain Mutation</atitle><jtitle>Circulation research</jtitle><addtitle>Circ Res</addtitle><date>1992-12</date><risdate>1992</risdate><volume>71</volume><issue>6</issue><spage>1404</spage><epage>1409</epage><pages>1404-1409</pages><issn>0009-7330</issn><eissn>1524-4571</eissn><coden>CIRUAL</coden><abstract>The sarcomeric proteins and organization of cardiac myofibrils appeared intact in multiple unrelated patients with hypertrophic cardiomyopathy. In two subjects demonstrating the missense mutation at position 403 (Arg to Gln) in the β-myosin heavy chain gene, total myosin and immunoreactive β-myosin heavy chain levels were similar to those found in other patients with hypertrophic cardiomyopathy and various disease control subjects. No alteration in expression of the cardiac α-myosin heavy chain gene was observed. These results are consistent with the examined myosin heavy chain mutation, permitting proper accumulation and assembly of myosin while primarily impairing contractile function. The characteristic myocyte disarray would appear likely to be a secondary consequence of the mutations.</abstract><cop>Hagerstown, MD</cop><pub>American Heart Association, Inc</pub><pmid>1423936</pmid><doi>10.1161/01.RES.71.6.1404</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Circulation research, 1992-12, Vol.71 (6), p.1404-1409 |
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| language | eng |
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| source | MEDLINE; American Heart Association Journals; EZB-FREE-00999 freely available EZB journals; Journals@Ovid Complete |
| subjects | Adolescent Adult Aged Biological and medical sciences Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - metabolism Cardiomyopathy, Hypertrophic - physiopathology Child Female Fluorescent Antibody Technique Fundamental and applied biological sciences. Psychology Genes Heart Humans Immunoblotting Male Microscopy, Polarization Middle Aged Mutation Myocardial Contraction Myocardium - ultrastructure Myofibrils - physiology Myosins - genetics Myosins - metabolism Vertebrates: cardiovascular system |
| title | Accumulation and Assembly of Myosin in Hypertrophic Cardiomyopathy With the 403 Arg to Gln β-Myosin Heavy Chain Mutation |
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