Measurement of ATP production in mitochondrial disorders
Summary Mitochondrial diseases are a heterogeneous group of disorders caused by mutations in both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Mitochondrial disease leads to impaired respiratory chain function and reduced ATP production. The aim of this study was to compare disturbances in mito...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2006-02, Vol.29 (1), p.86-91 |
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| container_title | Journal of inherited metabolic disease |
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| creator | Shepherd, R. K. Checcarelli, N. Naini, A. De Vivo, D. C. DiMauro, S. Sue, C. M. |
| description | Summary
Mitochondrial diseases are a heterogeneous group of disorders caused by mutations in both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Mitochondrial disease leads to impaired respiratory chain function and reduced ATP production. The aim of this study was to compare disturbances in mitochondrial function by measuring ATP synthesis in fibroblasts derived from patients with nDNA and mtDNA defects. Skin fibroblasts derived from 22 patients with either nDNA‐related disorders (n = 8) or mtDNA‐related disorders (n = 14) were analysed. ATP synthesis was markedly decreased in fibroblasts derived from patients with nDNA‐related disorders but only variably so in patients with mtDNA mutations. In fibroblasts with the MELAS 3243A > G mutation, ATP synthesis correlated with mutant load. We believe that the observed differences in ATP production between cell lines derived from patients with nDNA‐related disorders and mtDNA‐related disorders may help in the assessment of patients with undiagnosed mitochondrial disease. The clinical comparisons observed in patients with nDNA‐ and mtDNA‐related disorders may be explained by differences in the disturbance of ATP synthesis measured in the two conditions. |
| doi_str_mv | 10.1007/s10545-006-0148-8 |
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Mitochondrial diseases are a heterogeneous group of disorders caused by mutations in both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Mitochondrial disease leads to impaired respiratory chain function and reduced ATP production. The aim of this study was to compare disturbances in mitochondrial function by measuring ATP synthesis in fibroblasts derived from patients with nDNA and mtDNA defects. Skin fibroblasts derived from 22 patients with either nDNA‐related disorders (n = 8) or mtDNA‐related disorders (n = 14) were analysed. ATP synthesis was markedly decreased in fibroblasts derived from patients with nDNA‐related disorders but only variably so in patients with mtDNA mutations. In fibroblasts with the MELAS 3243A > G mutation, ATP synthesis correlated with mutant load. We believe that the observed differences in ATP production between cell lines derived from patients with nDNA‐related disorders and mtDNA‐related disorders may help in the assessment of patients with undiagnosed mitochondrial disease. The clinical comparisons observed in patients with nDNA‐ and mtDNA‐related disorders may be explained by differences in the disturbance of ATP synthesis measured in the two conditions.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/s10545-006-0148-8</identifier><identifier>PMID: 16601873</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Adenosine Triphosphate - biosynthesis ; Adenosine Triphosphate - metabolism ; Adolescent ; Adult ; Aged ; Biological and medical sciences ; Child ; Child, Preschool ; Errors of metabolism ; Female ; Fibroblasts - metabolism ; Humans ; Infant ; Male ; Medical genetics ; Medical sciences ; MELAS Syndrome - genetics ; Metabolic diseases ; Middle Aged ; Miscellaneous hereditary metabolic disorders ; Mitochondrial Diseases - diagnosis ; Mitochondrial Diseases - genetics ; Mitochondrial Diseases - metabolism ; Mutation</subject><ispartof>Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.86-91</ispartof><rights>2006 SSIEM</rights><rights>2006 INIST-CNRS</rights><rights>SSIEM and Springer 2006</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4476-c5b6a0bef0b386ec3def63d534c05c06823f077cb45d8e82eff013888ec3e7473</citedby><cites>FETCH-LOGICAL-c4476-c5b6a0bef0b386ec3def63d534c05c06823f077cb45d8e82eff013888ec3e7473</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1007%2Fs10545-006-0148-8$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1007%2Fs10545-006-0148-8$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17704504$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16601873$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shepherd, R. K.</creatorcontrib><creatorcontrib>Checcarelli, N.</creatorcontrib><creatorcontrib>Naini, A.</creatorcontrib><creatorcontrib>De Vivo, D. C.</creatorcontrib><creatorcontrib>DiMauro, S.</creatorcontrib><creatorcontrib>Sue, C. M.</creatorcontrib><title>Measurement of ATP production in mitochondrial disorders</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Summary
Mitochondrial diseases are a heterogeneous group of disorders caused by mutations in both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Mitochondrial disease leads to impaired respiratory chain function and reduced ATP production. The aim of this study was to compare disturbances in mitochondrial function by measuring ATP synthesis in fibroblasts derived from patients with nDNA and mtDNA defects. Skin fibroblasts derived from 22 patients with either nDNA‐related disorders (n = 8) or mtDNA‐related disorders (n = 14) were analysed. ATP synthesis was markedly decreased in fibroblasts derived from patients with nDNA‐related disorders but only variably so in patients with mtDNA mutations. In fibroblasts with the MELAS 3243A > G mutation, ATP synthesis correlated with mutant load. We believe that the observed differences in ATP production between cell lines derived from patients with nDNA‐related disorders and mtDNA‐related disorders may help in the assessment of patients with undiagnosed mitochondrial disease. The clinical comparisons observed in patients with nDNA‐ and mtDNA‐related disorders may be explained by differences in the disturbance of ATP synthesis measured in the two conditions.</description><subject>Adenosine Triphosphate - biosynthesis</subject><subject>Adenosine Triphosphate - metabolism</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>Fibroblasts - metabolism</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>MELAS Syndrome - genetics</subject><subject>Metabolic diseases</subject><subject>Middle Aged</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Mitochondrial Diseases - diagnosis</subject><subject>Mitochondrial Diseases - genetics</subject><subject>Mitochondrial Diseases - metabolism</subject><subject>Mutation</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqF0M9LHDEUwPFQKnW1_QN6KUOh3kZfNr_eHkXrL3ZpD_YcMpkXGpmZ2GQH8b83sgtCL54C4fNewpexrxxOOYA5KxyUVC2AboFLbPEDW3BlRLvUWn1ki3rJW1wpdciOSnkAgBUq9Ykdcq2BoxELhhtyZc400rRtUmjO7383jzn1s9_GNDVxasa4Tf5vmvoc3dD0saTcUy6f2UFwQ6Ev-_OY_bn6eX9x065_Xd9enK9bL6XRrVeddtBRgE6gJi96Clr0SkgPyoPGpQhgjO-k6pFwSSEAF4hYKRlpxDE72e2tv_o3U9naMRZPw-AmSnOx2qBYKaEr_P4ffEhznurf7JIjSl07VMR3yOdUSqZgH3McXX62HOxrU7tramtT-9rUYp35tl88dyP1bxP7iBX82ANXvBtCdpOP5c0ZA1KBrM7s3FMc6Pn9l-3d7eYSALV4Ac9UjeI</recordid><startdate>200602</startdate><enddate>200602</enddate><creator>Shepherd, R. 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M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4476-c5b6a0bef0b386ec3def63d534c05c06823f077cb45d8e82eff013888ec3e7473</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Adenosine Triphosphate - biosynthesis</topic><topic>Adenosine Triphosphate - metabolism</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>Fibroblasts - metabolism</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>MELAS Syndrome - genetics</topic><topic>Metabolic diseases</topic><topic>Middle Aged</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Mitochondrial Diseases - diagnosis</topic><topic>Mitochondrial Diseases - genetics</topic><topic>Mitochondrial Diseases - metabolism</topic><topic>Mutation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Shepherd, R. K.</creatorcontrib><creatorcontrib>Checcarelli, N.</creatorcontrib><creatorcontrib>Naini, A.</creatorcontrib><creatorcontrib>De Vivo, D. C.</creatorcontrib><creatorcontrib>DiMauro, S.</creatorcontrib><creatorcontrib>Sue, C. 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K.</au><au>Checcarelli, N.</au><au>Naini, A.</au><au>De Vivo, D. C.</au><au>DiMauro, S.</au><au>Sue, C. M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Measurement of ATP production in mitochondrial disorders</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>2006-02</date><risdate>2006</risdate><volume>29</volume><issue>1</issue><spage>86</spage><epage>91</epage><pages>86-91</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>Summary
Mitochondrial diseases are a heterogeneous group of disorders caused by mutations in both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Mitochondrial disease leads to impaired respiratory chain function and reduced ATP production. The aim of this study was to compare disturbances in mitochondrial function by measuring ATP synthesis in fibroblasts derived from patients with nDNA and mtDNA defects. Skin fibroblasts derived from 22 patients with either nDNA‐related disorders (n = 8) or mtDNA‐related disorders (n = 14) were analysed. ATP synthesis was markedly decreased in fibroblasts derived from patients with nDNA‐related disorders but only variably so in patients with mtDNA mutations. In fibroblasts with the MELAS 3243A > G mutation, ATP synthesis correlated with mutant load. We believe that the observed differences in ATP production between cell lines derived from patients with nDNA‐related disorders and mtDNA‐related disorders may help in the assessment of patients with undiagnosed mitochondrial disease. The clinical comparisons observed in patients with nDNA‐ and mtDNA‐related disorders may be explained by differences in the disturbance of ATP synthesis measured in the two conditions.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>16601873</pmid><doi>10.1007/s10545-006-0148-8</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adenosine Triphosphate - biosynthesis Adenosine Triphosphate - metabolism Adolescent Adult Aged Biological and medical sciences Child Child, Preschool Errors of metabolism Female Fibroblasts - metabolism Humans Infant Male Medical genetics Medical sciences MELAS Syndrome - genetics Metabolic diseases Middle Aged Miscellaneous hereditary metabolic disorders Mitochondrial Diseases - diagnosis Mitochondrial Diseases - genetics Mitochondrial Diseases - metabolism Mutation |
| title | Measurement of ATP production in mitochondrial disorders |
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