Early onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA Cytochrome C oxidase II gene
We report the first nonsense mutation (G7896A) in the mtDNA gene for subunit II of cytochrome c oxidase (COX) in a patient with early‐onset multisystem disease and COX deficiency in muscle. The mutation was heteroplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in CO...
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| Veröffentlicht in: | Annals of neurology 2001-09, Vol.50 (3), p.409-413 |
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| container_title | Annals of neurology |
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| creator | Campos, Yolanda García-Redondo, Alberto Fernández-Moreno, Miguel A. Martínez-Pardo, Mercedes Goda, Guillermo Rubio, Juan C. Martín, Miguel A. Del Hoyo, Pilar Cabello, Ana Bornstein, Belen Garesse, Rafael Arenas, Joaquín |
| description | We report the first nonsense mutation (G7896A) in the mtDNA gene for subunit II of cytochrome c oxidase (COX) in a patient with early‐onset multisystem disease and COX deficiency in muscle. The mutation was heteroplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in COX‐deficient fibers, but less abundant in COX‐positive fibers; it was not found in blood samples from the patient's asymptomatic maternal relatives. Immunoblot analysis showed a reduced concentration of both COX II and COX I polypeptides, suggesting impaired assembly of COX holoenzyme. |
| doi_str_mv | 10.1002/ana.1141 |
| format | Article |
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The mutation was heteroplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in COX‐deficient fibers, but less abundant in COX‐positive fibers; it was not found in blood samples from the patient's asymptomatic maternal relatives. Immunoblot analysis showed a reduced concentration of both COX II and COX I polypeptides, suggesting impaired assembly of COX holoenzyme.</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.1141</identifier><identifier>PMID: 11558799</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>Biological and medical sciences ; Child, Preschool ; Codon, Nonsense - genetics ; Diseases of striated muscles. Neuromuscular diseases ; DNA, Mitochondrial - biosynthesis ; DNA, Mitochondrial - genetics ; Electron Transport Complex IV - genetics ; Electron Transport Complex IV - metabolism ; Female ; Humans ; Medical sciences ; Mitochondrial Myopathies - enzymology ; Mitochondrial Myopathies - genetics ; Muscle, Skeletal - enzymology ; Neurology ; Phenotype ; Polymorphism, Restriction Fragment Length</subject><ispartof>Annals of neurology, 2001-09, Vol.50 (3), p.409-413</ispartof><rights>Copyright © 2001 Wiley‐Liss, Inc.</rights><rights>2001 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4501-d3f79b3c4c9e3eb973e5c5a06f688c903c8ccaf465827eedc5e9508d1e12ff573</citedby><cites>FETCH-LOGICAL-c4501-d3f79b3c4c9e3eb973e5c5a06f688c903c8ccaf465827eedc5e9508d1e12ff573</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fana.1141$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.1141$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1097640$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11558799$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Campos, Yolanda</creatorcontrib><creatorcontrib>García-Redondo, Alberto</creatorcontrib><creatorcontrib>Fernández-Moreno, Miguel A.</creatorcontrib><creatorcontrib>Martínez-Pardo, Mercedes</creatorcontrib><creatorcontrib>Goda, Guillermo</creatorcontrib><creatorcontrib>Rubio, Juan C.</creatorcontrib><creatorcontrib>Martín, Miguel A.</creatorcontrib><creatorcontrib>Del Hoyo, Pilar</creatorcontrib><creatorcontrib>Cabello, Ana</creatorcontrib><creatorcontrib>Bornstein, Belen</creatorcontrib><creatorcontrib>Garesse, Rafael</creatorcontrib><creatorcontrib>Arenas, Joaquín</creatorcontrib><title>Early onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA Cytochrome C oxidase II gene</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>We report the first nonsense mutation (G7896A) in the mtDNA gene for subunit II of cytochrome c oxidase (COX) in a patient with early‐onset multisystem disease and COX deficiency in muscle. The mutation was heteroplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in COX‐deficient fibers, but less abundant in COX‐positive fibers; it was not found in blood samples from the patient's asymptomatic maternal relatives. Immunoblot analysis showed a reduced concentration of both COX II and COX I polypeptides, suggesting impaired assembly of COX holoenzyme.</description><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>Codon, Nonsense - genetics</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>DNA, Mitochondrial - biosynthesis</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Electron Transport Complex IV - genetics</subject><subject>Electron Transport Complex IV - metabolism</subject><subject>Female</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Mitochondrial Myopathies - enzymology</subject><subject>Mitochondrial Myopathies - genetics</subject><subject>Muscle, Skeletal - enzymology</subject><subject>Neurology</subject><subject>Phenotype</subject><subject>Polymorphism, Restriction Fragment Length</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kdFqFDEUhoNY7LYKPoHkQqQ3U5NNMplcbqe1LpT1QkXwJmQzZ2x0JqnJDO3c-uRm2EGLIBwIHL7_P_AFoZeUnFNC1m-NN-eUcvoErahgtKjWXD1FK8JKXgjK-DE6Sek7IUSVlDxDx5QKUUmlVujXlYndhINPMOB-7AaXpjRAj3s3BHsbfBOd6XDjUogNRGzNmKDB-wkb7OdUnpwbzOCCx87j4Rb-yV7uNrie5k0MPeAahwfXmBzbbvE38PAcHbWmS_BieU_R53dXn-r3xc2H6229uSksF4QWDWul2jPLrQIGeyUZCCsMKduyqqwizFbWmpaXolpLgMYKUIJUDQW6blsh2Sl6c-i9i-HnCGnQvUsWus54CGPSktIqK5rBswNoY0gpQqvvoutNnDQlevats289-87oq6Vz3PfQ_AUXwRl4vQAmWdO10Xjr0qNCJUtOMlYcsHvXwfTfe3qz2yx3F97lz3r4w5v4Q5eSSaG_7K41rS8-XnxVRHP2G4AopvE</recordid><startdate>200109</startdate><enddate>200109</enddate><creator>Campos, Yolanda</creator><creator>García-Redondo, Alberto</creator><creator>Fernández-Moreno, Miguel A.</creator><creator>Martínez-Pardo, Mercedes</creator><creator>Goda, Guillermo</creator><creator>Rubio, Juan C.</creator><creator>Martín, Miguel A.</creator><creator>Del Hoyo, Pilar</creator><creator>Cabello, Ana</creator><creator>Bornstein, Belen</creator><creator>Garesse, Rafael</creator><creator>Arenas, Joaquín</creator><general>John Wiley & Sons, Inc</general><general>Willey-Liss</general><scope>BSCLL</scope><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>200109</creationdate><title>Early onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA Cytochrome C oxidase II gene</title><author>Campos, Yolanda ; García-Redondo, Alberto ; Fernández-Moreno, Miguel A. ; Martínez-Pardo, Mercedes ; Goda, Guillermo ; Rubio, Juan C. ; Martín, Miguel A. ; Del Hoyo, Pilar ; Cabello, Ana ; Bornstein, Belen ; Garesse, Rafael ; Arenas, Joaquín</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4501-d3f79b3c4c9e3eb973e5c5a06f688c903c8ccaf465827eedc5e9508d1e12ff573</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Biological and medical sciences</topic><topic>Child, Preschool</topic><topic>Codon, Nonsense - genetics</topic><topic>Diseases of striated muscles. 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| ispartof | Annals of neurology, 2001-09, Vol.50 (3), p.409-413 |
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| subjects | Biological and medical sciences Child, Preschool Codon, Nonsense - genetics Diseases of striated muscles. Neuromuscular diseases DNA, Mitochondrial - biosynthesis DNA, Mitochondrial - genetics Electron Transport Complex IV - genetics Electron Transport Complex IV - metabolism Female Humans Medical sciences Mitochondrial Myopathies - enzymology Mitochondrial Myopathies - genetics Muscle, Skeletal - enzymology Neurology Phenotype Polymorphism, Restriction Fragment Length |
| title | Early onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA Cytochrome C oxidase II gene |
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