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31P NMR examination of two patients with NADH-CoQ reductase deficiency
Mitochondrial myopathies are becoming increasingly recognized as uncommon causes of muscular disorders 1 characterized by weakness and severe exercise intolerance. Electron micrographs of the muscle show gross abnormality of the mitochondrial structure. Such defects are expected to affect the energy...
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| Published in: | Nature (London) 1982-02, Vol.295 (5850), p.608-609 |
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| Main Authors: | , , , , , , |
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| container_end_page | 609 |
| container_issue | 5850 |
| container_start_page | 608 |
| container_title | Nature (London) |
| container_volume | 295 |
| creator | Radda, G. K. Bore, P. J. Gadian, D. G. Ross, B. D. Styles, P. Taylor, D. J. Morgan-Hughes, J. |
| description | Mitochondrial myopathies are becoming increasingly recognized as uncommon causes of muscular disorders
1
characterized by weakness and severe exercise intolerance. Electron micrographs of the muscle show gross abnormality of the mitochondrial structure. Such defects are expected to affect the energy metabolism of muscle but investigations in human subjects have necessarily been limited by the need for biopsy material. Following extensive phosphorus nuclear magnetic resonance (
31
P NMR) measurements on isolated organs, tissues and selected parts of live animals (see ref. 2 for review), it has become possible to observe non-invasively the energy metabolism of human muscle
in vivo
3–5
. Here, we report abnormal recovery of phosphocreatine (PCr) and
p
H after exercise of the forearm in two sisters, one of whom has been shown to have a mitochondrial NADH-coenzyme Q reductase deficiency and the other presumed to have the same defect on the basis of clinical symptoms, histology and biochemical studies of blood constituents
6
. Our results, together with studies on normal subjects and patients with impaired glycogen metabolism, allow the assessment of the relative importance of oxidative and glycolytic regeneration of high-energy phosphates during exercise and recovery. |
| doi_str_mv | 10.1038/295608a0 |
| format | article |
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1
characterized by weakness and severe exercise intolerance. Electron micrographs of the muscle show gross abnormality of the mitochondrial structure. Such defects are expected to affect the energy metabolism of muscle but investigations in human subjects have necessarily been limited by the need for biopsy material. Following extensive phosphorus nuclear magnetic resonance (
31
P NMR) measurements on isolated organs, tissues and selected parts of live animals (see ref. 2 for review), it has become possible to observe non-invasively the energy metabolism of human muscle
in vivo
3–5
. Here, we report abnormal recovery of phosphocreatine (PCr) and
p
H after exercise of the forearm in two sisters, one of whom has been shown to have a mitochondrial NADH-coenzyme Q reductase deficiency and the other presumed to have the same defect on the basis of clinical symptoms, histology and biochemical studies of blood constituents
6
. Our results, together with studies on normal subjects and patients with impaired glycogen metabolism, allow the assessment of the relative importance of oxidative and glycolytic regeneration of high-energy phosphates during exercise and recovery.</description><identifier>ISSN: 0028-0836</identifier><identifier>EISSN: 1476-4687</identifier><identifier>DOI: 10.1038/295608a0</identifier><identifier>PMID: 6799841</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Adult ; Female ; Humanities and Social Sciences ; Humans ; Hydrogen-Ion Concentration ; Kinetics ; letter ; Magnetic Resonance Spectroscopy ; Male ; Mitochondria, Muscle - physiology ; multidisciplinary ; Muscular Diseases - physiopathology ; NAD(P)H Dehydrogenase (Quinone) ; NADH, NADPH Oxidoreductases - deficiency ; Phosphocreatine ; Physical Exertion ; Quinone Reductases - deficiency ; Science ; Science (multidisciplinary)</subject><ispartof>Nature (London), 1982-02, Vol.295 (5850), p.608-609</ispartof><rights>Springer Nature Limited 1982</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c1590-b10ac18fda102b7bb9318d3024dd7042b16d8975a3085e54a34b0c85930f9c2c3</citedby><cites>FETCH-LOGICAL-c1590-b10ac18fda102b7bb9318d3024dd7042b16d8975a3085e54a34b0c85930f9c2c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/6799841$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Radda, G. K.</creatorcontrib><creatorcontrib>Bore, P. J.</creatorcontrib><creatorcontrib>Gadian, D. G.</creatorcontrib><creatorcontrib>Ross, B. D.</creatorcontrib><creatorcontrib>Styles, P.</creatorcontrib><creatorcontrib>Taylor, D. J.</creatorcontrib><creatorcontrib>Morgan-Hughes, J.</creatorcontrib><title>31P NMR examination of two patients with NADH-CoQ reductase deficiency</title><title>Nature (London)</title><addtitle>Nature</addtitle><addtitle>Nature</addtitle><description>Mitochondrial myopathies are becoming increasingly recognized as uncommon causes of muscular disorders
1
characterized by weakness and severe exercise intolerance. Electron micrographs of the muscle show gross abnormality of the mitochondrial structure. Such defects are expected to affect the energy metabolism of muscle but investigations in human subjects have necessarily been limited by the need for biopsy material. Following extensive phosphorus nuclear magnetic resonance (
31
P NMR) measurements on isolated organs, tissues and selected parts of live animals (see ref. 2 for review), it has become possible to observe non-invasively the energy metabolism of human muscle
in vivo
3–5
. Here, we report abnormal recovery of phosphocreatine (PCr) and
p
H after exercise of the forearm in two sisters, one of whom has been shown to have a mitochondrial NADH-coenzyme Q reductase deficiency and the other presumed to have the same defect on the basis of clinical symptoms, histology and biochemical studies of blood constituents
6
. Our results, together with studies on normal subjects and patients with impaired glycogen metabolism, allow the assessment of the relative importance of oxidative and glycolytic regeneration of high-energy phosphates during exercise and recovery.</description><subject>Adult</subject><subject>Female</subject><subject>Humanities and Social Sciences</subject><subject>Humans</subject><subject>Hydrogen-Ion Concentration</subject><subject>Kinetics</subject><subject>letter</subject><subject>Magnetic Resonance Spectroscopy</subject><subject>Male</subject><subject>Mitochondria, Muscle - physiology</subject><subject>multidisciplinary</subject><subject>Muscular Diseases - physiopathology</subject><subject>NAD(P)H Dehydrogenase (Quinone)</subject><subject>NADH, NADPH Oxidoreductases - deficiency</subject><subject>Phosphocreatine</subject><subject>Physical Exertion</subject><subject>Quinone Reductases - deficiency</subject><subject>Science</subject><subject>Science (multidisciplinary)</subject><issn>0028-0836</issn><issn>1476-4687</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1982</creationdate><recordtype>article</recordtype><recordid>eNplkEtLAzEUhYMotVbBPyBkJboYvXnNJMtSrRVqfaDrIZNkdEo7qckMtf_ekVY3ri6H7-PAPQidErgiwOQ1VSIFqWEP9QnP0oSnMttHfQAqE5AsPURHMc4BQJCM91AvzZSSnPTRmJEnPHt4we5LL6taN5WvsS9xs_Z41SVXNxGvq-YDz4Y3k2Tkn3FwtjWNjg5bV1amU8zmGB2UehHdye4O0Nv49nU0SaaPd_ej4TQxRChICgLaEFlaTYAWWVEoRqRlQLm1GXBakNRKlQnNQAonuGa8ACOFYlAqQw0boPNt7yr4z9bFJl9W0bjFQtfOtzHPOFAqRdqJF1vRBB9jcGW-CtVSh01OIP-ZLP-drFPPdp1tsXT2T9xt1PHLLY8dqd9dyOe-DXX35v-ub9ckcKw</recordid><startdate>19820218</startdate><enddate>19820218</enddate><creator>Radda, G. K.</creator><creator>Bore, P. J.</creator><creator>Gadian, D. G.</creator><creator>Ross, B. D.</creator><creator>Styles, P.</creator><creator>Taylor, D. J.</creator><creator>Morgan-Hughes, J.</creator><general>Nature Publishing Group UK</general><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>19820218</creationdate><title>31P NMR examination of two patients with NADH-CoQ reductase deficiency</title><author>Radda, G. K. ; Bore, P. J. ; Gadian, D. G. ; Ross, B. D. ; Styles, P. ; Taylor, D. J. ; Morgan-Hughes, J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c1590-b10ac18fda102b7bb9318d3024dd7042b16d8975a3085e54a34b0c85930f9c2c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1982</creationdate><topic>Adult</topic><topic>Female</topic><topic>Humanities and Social Sciences</topic><topic>Humans</topic><topic>Hydrogen-Ion Concentration</topic><topic>Kinetics</topic><topic>letter</topic><topic>Magnetic Resonance Spectroscopy</topic><topic>Male</topic><topic>Mitochondria, Muscle - physiology</topic><topic>multidisciplinary</topic><topic>Muscular Diseases - physiopathology</topic><topic>NAD(P)H Dehydrogenase (Quinone)</topic><topic>NADH, NADPH Oxidoreductases - deficiency</topic><topic>Phosphocreatine</topic><topic>Physical Exertion</topic><topic>Quinone Reductases - deficiency</topic><topic>Science</topic><topic>Science (multidisciplinary)</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Radda, G. K.</creatorcontrib><creatorcontrib>Bore, P. J.</creatorcontrib><creatorcontrib>Gadian, D. G.</creatorcontrib><creatorcontrib>Ross, B. D.</creatorcontrib><creatorcontrib>Styles, P.</creatorcontrib><creatorcontrib>Taylor, D. J.</creatorcontrib><creatorcontrib>Morgan-Hughes, J.</creatorcontrib><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>Nature (London)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Radda, G. K.</au><au>Bore, P. J.</au><au>Gadian, D. G.</au><au>Ross, B. D.</au><au>Styles, P.</au><au>Taylor, D. J.</au><au>Morgan-Hughes, J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>31P NMR examination of two patients with NADH-CoQ reductase deficiency</atitle><jtitle>Nature (London)</jtitle><stitle>Nature</stitle><addtitle>Nature</addtitle><date>1982-02-18</date><risdate>1982</risdate><volume>295</volume><issue>5850</issue><spage>608</spage><epage>609</epage><pages>608-609</pages><issn>0028-0836</issn><eissn>1476-4687</eissn><abstract>Mitochondrial myopathies are becoming increasingly recognized as uncommon causes of muscular disorders
1
characterized by weakness and severe exercise intolerance. Electron micrographs of the muscle show gross abnormality of the mitochondrial structure. Such defects are expected to affect the energy metabolism of muscle but investigations in human subjects have necessarily been limited by the need for biopsy material. Following extensive phosphorus nuclear magnetic resonance (
31
P NMR) measurements on isolated organs, tissues and selected parts of live animals (see ref. 2 for review), it has become possible to observe non-invasively the energy metabolism of human muscle
in vivo
3–5
. Here, we report abnormal recovery of phosphocreatine (PCr) and
p
H after exercise of the forearm in two sisters, one of whom has been shown to have a mitochondrial NADH-coenzyme Q reductase deficiency and the other presumed to have the same defect on the basis of clinical symptoms, histology and biochemical studies of blood constituents
6
. Our results, together with studies on normal subjects and patients with impaired glycogen metabolism, allow the assessment of the relative importance of oxidative and glycolytic regeneration of high-energy phosphates during exercise and recovery.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>6799841</pmid><doi>10.1038/295608a0</doi><tpages>2</tpages></addata></record> |
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| ispartof | Nature (London), 1982-02, Vol.295 (5850), p.608-609 |
| issn | 0028-0836 1476-4687 |
| language | eng |
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| source | Nature |
| subjects | Adult Female Humanities and Social Sciences Humans Hydrogen-Ion Concentration Kinetics letter Magnetic Resonance Spectroscopy Male Mitochondria, Muscle - physiology multidisciplinary Muscular Diseases - physiopathology NAD(P)H Dehydrogenase (Quinone) NADH, NADPH Oxidoreductases - deficiency Phosphocreatine Physical Exertion Quinone Reductases - deficiency Science Science (multidisciplinary) |
| title | 31P NMR examination of two patients with NADH-CoQ reductase deficiency |
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