Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene
A 13‐year‐old girl with non‐familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged‐red fibres and 80% COX‐negative staining. Enzymatic activities of mitochondrially co‐encoded respiratory chai...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2003, Vol.26 (6), p.593-600 |
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| container_title | Journal of inherited metabolic disease |
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| creator | Grafakou, O. Hol, F. A. Otfried Schwab, K. Siers, M. H. Ter Laak, H. Trijbels, F. Ensenauer, R. Boelen, C. Smeitink, J. |
| description | A 13‐year‐old girl with non‐familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged‐red fibres and 80% COX‐negative staining. Enzymatic activities of mitochondrially co‐encoded respiratory chain enzymes (complexes I, III, and IV) were decreased in muscle but normal in cultured skin fibroblasts. mtDNA analysis revealed the presence of the 7497G>A mutation in the tRNASer(UCN) gene, homoplasmic in skeletal muscle and 90% in leukocytes. Analysis of the mother's mtDNA showed 10% heteroplasmy in blood. It may be concluded that the 7497G>A mutation is associated with a muscle‐only disease presentation for which high levels of mutated mtDNA are required. Exercise intolerance and muscle pain in otherwise normal children warrants further mitochondrial evaluation. |
| doi_str_mv | 10.1023/A:1025960300710 |
| format | Article |
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A. ; Otfried Schwab, K. ; Siers, M. H. ; Ter Laak, H. ; Trijbels, F. ; Ensenauer, R. ; Boelen, C. ; Smeitink, J.</creator><creatorcontrib>Grafakou, O. ; Hol, F. A. ; Otfried Schwab, K. ; Siers, M. H. ; Ter Laak, H. ; Trijbels, F. ; Ensenauer, R. ; Boelen, C. ; Smeitink, J.</creatorcontrib><description>A 13‐year‐old girl with non‐familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged‐red fibres and 80% COX‐negative staining. Enzymatic activities of mitochondrially co‐encoded respiratory chain enzymes (complexes I, III, and IV) were decreased in muscle but normal in cultured skin fibroblasts. mtDNA analysis revealed the presence of the 7497G>A mutation in the tRNASer(UCN) gene, homoplasmic in skeletal muscle and 90% in leukocytes. Analysis of the mother's mtDNA showed 10% heteroplasmy in blood. It may be concluded that the 7497G>A mutation is associated with a muscle‐only disease presentation for which high levels of mutated mtDNA are required. Exercise intolerance and muscle pain in otherwise normal children warrants further mitochondrial evaluation.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1023/A:1025960300710</identifier><identifier>PMID: 14605505</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Acidosis, Lactic - complications ; Acidosis, Lactic - genetics ; Adolescent ; Biological and medical sciences ; Brain - pathology ; DNA, Mitochondrial - genetics ; Electrocardiography ; Electroencephalography ; Electromyography ; Evoked Potentials, Auditory - physiology ; Evoked Potentials, Somatosensory - physiology ; Exercise Tolerance - genetics ; Feeding. Feeding behavior ; Female ; Fibroblasts - enzymology ; Fundamental and applied biological sciences. Psychology ; Genetics of eukaryotes. Biological and molecular evolution ; Humans ; Magnetic Resonance Imaging ; Molecular and cellular biology ; Muscle, Skeletal - enzymology ; Muscle, Skeletal - pathology ; Muscular Diseases - genetics ; Muscular Diseases - pathology ; Oxidation-Reduction ; Pain - complications ; Pain - genetics ; Reverse Transcriptase Polymerase Chain Reaction ; RNA, Transfer, Ser - genetics ; Vertebrates: anatomy and physiology, studies on body, several organs or systems</subject><ispartof>Journal of inherited metabolic disease, 2003, Vol.26 (6), p.593-600</ispartof><rights>2003 SSIEM</rights><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1023%2FA%3A1025960300710$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1023%2FA%3A1025960300710$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,4024,27923,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15210398$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14605505$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Grafakou, O.</creatorcontrib><creatorcontrib>Hol, F. A.</creatorcontrib><creatorcontrib>Otfried Schwab, K.</creatorcontrib><creatorcontrib>Siers, M. H.</creatorcontrib><creatorcontrib>Ter Laak, H.</creatorcontrib><creatorcontrib>Trijbels, F.</creatorcontrib><creatorcontrib>Ensenauer, R.</creatorcontrib><creatorcontrib>Boelen, C.</creatorcontrib><creatorcontrib>Smeitink, J.</creatorcontrib><title>Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>A 13‐year‐old girl with non‐familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged‐red fibres and 80% COX‐negative staining. Enzymatic activities of mitochondrially co‐encoded respiratory chain enzymes (complexes I, III, and IV) were decreased in muscle but normal in cultured skin fibroblasts. mtDNA analysis revealed the presence of the 7497G>A mutation in the tRNASer(UCN) gene, homoplasmic in skeletal muscle and 90% in leukocytes. Analysis of the mother's mtDNA showed 10% heteroplasmy in blood. It may be concluded that the 7497G>A mutation is associated with a muscle‐only disease presentation for which high levels of mutated mtDNA are required. Exercise intolerance and muscle pain in otherwise normal children warrants further mitochondrial evaluation.</description><subject>Acidosis, Lactic - complications</subject><subject>Acidosis, Lactic - genetics</subject><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Electrocardiography</subject><subject>Electroencephalography</subject><subject>Electromyography</subject><subject>Evoked Potentials, Auditory - physiology</subject><subject>Evoked Potentials, Somatosensory - physiology</subject><subject>Exercise Tolerance - genetics</subject><subject>Feeding. Feeding behavior</subject><subject>Female</subject><subject>Fibroblasts - enzymology</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Humans</subject><subject>Magnetic Resonance Imaging</subject><subject>Molecular and cellular biology</subject><subject>Muscle, Skeletal - enzymology</subject><subject>Muscle, Skeletal - pathology</subject><subject>Muscular Diseases - genetics</subject><subject>Muscular Diseases - pathology</subject><subject>Oxidation-Reduction</subject><subject>Pain - complications</subject><subject>Pain - genetics</subject><subject>Reverse Transcriptase Polymerase Chain Reaction</subject><subject>RNA, Transfer, Ser - genetics</subject><subject>Vertebrates: anatomy and physiology, studies on body, several organs or systems</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkUlLxEAQhRtRdFzO3qQvioLR6nQ6iwchjDsu4HIOlU61tmQZ0z2M_nszOCKe3qG-96DeY2xbwJGAUB7nJ4OoLAYJkAhYYiOhEhmEcayW2QhEJII0U2qNrTv3DgBZqtQqWxNRDEqBGrH-_JN6bR1x2_quph5bTYe8mTpdE5-gbTm2Fa9Re6s5alshNRY5Otdpi54qPrP-jSNPoiy5PM0Hq0dvu3YI5P6NuH-8z5-o338Z3x_wV2ppk60YrB1tLXSDvVycP4-vgtuHy-txfhtMhAQZVKTjykRCVSWY0kTDS6QBjdAJkMmSMhZVGeo40mEqVUJQGjAUhVFKoZZSyQ2295M76buPKTlfNNZpqmtsqZu6IhFyqEGkA7izAKdlQ1Ux6W2D_Vfx29IA7C4AdBprMy_Juj9OhQJkNg9SP9zM1vT1d4diPlaRF__GKm6u785AZVJ-A4MAhNA</recordid><startdate>2003</startdate><enddate>2003</enddate><creator>Grafakou, O.</creator><creator>Hol, F. A.</creator><creator>Otfried Schwab, K.</creator><creator>Siers, M. H.</creator><creator>Ter Laak, H.</creator><creator>Trijbels, F.</creator><creator>Ensenauer, R.</creator><creator>Boelen, C.</creator><creator>Smeitink, J.</creator><general>Kluwer Academic Publishers</general><general>Springer</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>2003</creationdate><title>Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene</title><author>Grafakou, O. ; Hol, F. A. ; Otfried Schwab, K. ; Siers, M. 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Feeding behavior</topic><topic>Female</topic><topic>Fibroblasts - enzymology</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Humans</topic><topic>Magnetic Resonance Imaging</topic><topic>Molecular and cellular biology</topic><topic>Muscle, Skeletal - enzymology</topic><topic>Muscle, Skeletal - pathology</topic><topic>Muscular Diseases - genetics</topic><topic>Muscular Diseases - pathology</topic><topic>Oxidation-Reduction</topic><topic>Pain - complications</topic><topic>Pain - genetics</topic><topic>Reverse Transcriptase Polymerase Chain Reaction</topic><topic>RNA, Transfer, Ser - genetics</topic><topic>Vertebrates: anatomy and physiology, studies on body, several organs or systems</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Grafakou, O.</creatorcontrib><creatorcontrib>Hol, F. A.</creatorcontrib><creatorcontrib>Otfried Schwab, K.</creatorcontrib><creatorcontrib>Siers, M. H.</creatorcontrib><creatorcontrib>Ter Laak, H.</creatorcontrib><creatorcontrib>Trijbels, F.</creatorcontrib><creatorcontrib>Ensenauer, R.</creatorcontrib><creatorcontrib>Boelen, C.</creatorcontrib><creatorcontrib>Smeitink, J.</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>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Grafakou, O.</au><au>Hol, F. A.</au><au>Otfried Schwab, K.</au><au>Siers, M. H.</au><au>Ter Laak, H.</au><au>Trijbels, F.</au><au>Ensenauer, R.</au><au>Boelen, C.</au><au>Smeitink, J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>2003</date><risdate>2003</risdate><volume>26</volume><issue>6</issue><spage>593</spage><epage>600</epage><pages>593-600</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>A 13‐year‐old girl with non‐familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged‐red fibres and 80% COX‐negative staining. Enzymatic activities of mitochondrially co‐encoded respiratory chain enzymes (complexes I, III, and IV) were decreased in muscle but normal in cultured skin fibroblasts. mtDNA analysis revealed the presence of the 7497G>A mutation in the tRNASer(UCN) gene, homoplasmic in skeletal muscle and 90% in leukocytes. Analysis of the mother's mtDNA showed 10% heteroplasmy in blood. It may be concluded that the 7497G>A mutation is associated with a muscle‐only disease presentation for which high levels of mutated mtDNA are required. Exercise intolerance and muscle pain in otherwise normal children warrants further mitochondrial evaluation.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>14605505</pmid><doi>10.1023/A:1025960300710</doi><tpages>8</tpages></addata></record> |
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| subjects | Acidosis, Lactic - complications Acidosis, Lactic - genetics Adolescent Biological and medical sciences Brain - pathology DNA, Mitochondrial - genetics Electrocardiography Electroencephalography Electromyography Evoked Potentials, Auditory - physiology Evoked Potentials, Somatosensory - physiology Exercise Tolerance - genetics Feeding. Feeding behavior Female Fibroblasts - enzymology Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Humans Magnetic Resonance Imaging Molecular and cellular biology Muscle, Skeletal - enzymology Muscle, Skeletal - pathology Muscular Diseases - genetics Muscular Diseases - pathology Oxidation-Reduction Pain - complications Pain - genetics Reverse Transcriptase Polymerase Chain Reaction RNA, Transfer, Ser - genetics Vertebrates: anatomy and physiology, studies on body, several organs or systems |
| title | Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene |
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