Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy
Electron microscopic cytochemistry was used to evaluate the behavior of cytochrome c oxidase (COX) in cultured skin fibroblasts from 4 patients with decreased COX activity (Leigh encephalopathy, fatal infantile COX deficiency). In patients with Leigh encephalopathy, all mitochondria reacted to COX s...
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| Veröffentlicht in: | Pediatric neurology 1992, Vol.8 (1), p.13-18 |
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| container_title | Pediatric neurology |
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| creator | Haginoya, Kazuhiro Miyabayashi, Shigeaki Iinuma, Kazuie Okino, Eizo Maesaka, Hatae Tada, Keiya |
| description | Electron microscopic cytochemistry was used to evaluate the behavior of cytochrome c oxidase (COX) in cultured skin fibroblasts from 4 patients with decreased COX activity (Leigh encephalopathy, fatal infantile COX deficiency). In patients with Leigh encephalopathy, all mitochondria reacted to COX staining either equivocally or negatively, indicating that all mitochondria were abnormal in these patients. In 1 patient with fatal infantile COX deficiency, intercellular heterogeneity of mitochondria was observed by COX staining. In another patient with fatal infantile COX deficiency, intracellular heterogeneity of mitochondria was observed. Patients with Leigh encephalopathy appeared to have a different type of mitochondrial COX deficiency than those with fatal infantile COX deficiency. Our results suggest that these 2 diseases may result from different genetic mechanisms. |
| doi_str_mv | 10.1016/0887-8994(92)90046-2 |
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In patients with Leigh encephalopathy, all mitochondria reacted to COX staining either equivocally or negatively, indicating that all mitochondria were abnormal in these patients. In 1 patient with fatal infantile COX deficiency, intercellular heterogeneity of mitochondria was observed by COX staining. In another patient with fatal infantile COX deficiency, intracellular heterogeneity of mitochondria was observed. Patients with Leigh encephalopathy appeared to have a different type of mitochondrial COX deficiency than those with fatal infantile COX deficiency. Our results suggest that these 2 diseases may result from different genetic mechanisms.</description><identifier>ISSN: 0887-8994</identifier><identifier>EISSN: 1873-5150</identifier><identifier>DOI: 10.1016/0887-8994(92)90046-2</identifier><identifier>PMID: 1313674</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Acidosis, Lactic - enzymology ; Acidosis, Lactic - genetics ; Acidosis, Lactic - pathology ; Biological and medical sciences ; Brain - enzymology ; Brain - pathology ; Brain Diseases, Metabolic - enzymology ; Brain Diseases, Metabolic - genetics ; Brain Diseases, Metabolic - pathology ; Child ; Child, Preschool ; Cytochrome-c Oxidase Deficiency ; Electron Transport Complex IV - genetics ; Electron Transport Complex IV - physiology ; Female ; Humans ; Infant ; Infant, Newborn ; Leigh Disease - enzymology ; Leigh Disease - genetics ; Leigh Disease - pathology ; Male ; Medical sciences ; Microscopy, Electron ; Mitochondria, Muscle - enzymology ; Mitochondria, Muscle - ultrastructure ; Muscles - enzymology ; Muscles - pathology ; Nervous system (semeiology, syndromes) ; Neurology ; Neuromuscular Diseases - enzymology ; Neuromuscular Diseases - genetics ; Neuromuscular Diseases - pathology</subject><ispartof>Pediatric neurology, 1992, Vol.8 (1), p.13-18</ispartof><rights>1992</rights><rights>1992 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c386t-91e4f0f00af741c5fea15bcac73a21591b1ad8a083ebb4147850c9c9d44469653</citedby><cites>FETCH-LOGICAL-c386t-91e4f0f00af741c5fea15bcac73a21591b1ad8a083ebb4147850c9c9d44469653</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/0887-8994(92)90046-2$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3536,4009,27902,27903,27904,45974</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5174102$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1313674$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Haginoya, Kazuhiro</creatorcontrib><creatorcontrib>Miyabayashi, Shigeaki</creatorcontrib><creatorcontrib>Iinuma, Kazuie</creatorcontrib><creatorcontrib>Okino, Eizo</creatorcontrib><creatorcontrib>Maesaka, Hatae</creatorcontrib><creatorcontrib>Tada, Keiya</creatorcontrib><title>Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy</title><title>Pediatric neurology</title><addtitle>Pediatr Neurol</addtitle><description>Electron microscopic cytochemistry was used to evaluate the behavior of cytochrome c oxidase (COX) in cultured skin fibroblasts from 4 patients with decreased COX activity (Leigh encephalopathy, fatal infantile COX deficiency). In patients with Leigh encephalopathy, all mitochondria reacted to COX staining either equivocally or negatively, indicating that all mitochondria were abnormal in these patients. In 1 patient with fatal infantile COX deficiency, intercellular heterogeneity of mitochondria was observed by COX staining. In another patient with fatal infantile COX deficiency, intracellular heterogeneity of mitochondria was observed. Patients with Leigh encephalopathy appeared to have a different type of mitochondrial COX deficiency than those with fatal infantile COX deficiency. Our results suggest that these 2 diseases may result from different genetic mechanisms.</description><subject>Acidosis, Lactic - enzymology</subject><subject>Acidosis, Lactic - genetics</subject><subject>Acidosis, Lactic - pathology</subject><subject>Biological and medical sciences</subject><subject>Brain - enzymology</subject><subject>Brain - pathology</subject><subject>Brain Diseases, Metabolic - enzymology</subject><subject>Brain Diseases, Metabolic - genetics</subject><subject>Brain Diseases, Metabolic - pathology</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cytochrome-c Oxidase Deficiency</subject><subject>Electron Transport Complex IV - genetics</subject><subject>Electron Transport Complex IV - physiology</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Leigh Disease - enzymology</subject><subject>Leigh Disease - genetics</subject><subject>Leigh Disease - pathology</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Microscopy, Electron</subject><subject>Mitochondria, Muscle - enzymology</subject><subject>Mitochondria, Muscle - ultrastructure</subject><subject>Muscles - enzymology</subject><subject>Muscles - pathology</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>Neuromuscular Diseases - enzymology</subject><subject>Neuromuscular Diseases - genetics</subject><subject>Neuromuscular Diseases - pathology</subject><issn>0887-8994</issn><issn>1873-5150</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1LxDAURYMo4_jxDxS6ENFFNWmTNtkIUsYPGHCj65CmL0ykbcakI_bf29phxI2rR7jnXV4OQmcE3xBMslvMeR5zIeiVSK4FxjSLkz00JzxPY0YY3kfzHXKIjkJ4xxgzkdAZmpGUpFlO52hR9J3TK-8aiIrIfdlKBYgrMFZbaLuosWPs2spbFdn2z7uOmt6tVbfqT9CBUXWA0-08Rm8Pi9fiKV6-PD4X98tYpzzrYkGAGmwwVianRDMDirBSK52nKiFMkJKoiivMUyhLSmjOGdZCi4pSmomMpcfocupde_exgdDJxgYNda1acJsg84TngifJANIJ1N6F4MHItbeN8r0kWI725KhGjmqkSOSPPTmunW_7N2UD1e_SpGvIL7a5ClrVxqtW27DDGBm-hceauwmDwcWnBS_DaFNDZT3oTlbO_n_HN0AYi3A</recordid><startdate>1992</startdate><enddate>1992</enddate><creator>Haginoya, Kazuhiro</creator><creator>Miyabayashi, Shigeaki</creator><creator>Iinuma, Kazuie</creator><creator>Okino, Eizo</creator><creator>Maesaka, Hatae</creator><creator>Tada, Keiya</creator><general>Elsevier Inc</general><general>Elsevier</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>1992</creationdate><title>Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy</title><author>Haginoya, Kazuhiro ; Miyabayashi, Shigeaki ; Iinuma, Kazuie ; Okino, Eizo ; Maesaka, Hatae ; Tada, Keiya</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c386t-91e4f0f00af741c5fea15bcac73a21591b1ad8a083ebb4147850c9c9d44469653</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Acidosis, Lactic - enzymology</topic><topic>Acidosis, Lactic - genetics</topic><topic>Acidosis, Lactic - pathology</topic><topic>Biological and medical sciences</topic><topic>Brain - enzymology</topic><topic>Brain - pathology</topic><topic>Brain Diseases, Metabolic - enzymology</topic><topic>Brain Diseases, Metabolic - genetics</topic><topic>Brain Diseases, Metabolic - pathology</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cytochrome-c Oxidase Deficiency</topic><topic>Electron Transport Complex IV - genetics</topic><topic>Electron Transport Complex IV - physiology</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Leigh Disease - enzymology</topic><topic>Leigh Disease - genetics</topic><topic>Leigh Disease - pathology</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Microscopy, Electron</topic><topic>Mitochondria, Muscle - enzymology</topic><topic>Mitochondria, Muscle - ultrastructure</topic><topic>Muscles - enzymology</topic><topic>Muscles - pathology</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Neurology</topic><topic>Neuromuscular Diseases - enzymology</topic><topic>Neuromuscular Diseases - genetics</topic><topic>Neuromuscular Diseases - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Haginoya, Kazuhiro</creatorcontrib><creatorcontrib>Miyabayashi, Shigeaki</creatorcontrib><creatorcontrib>Iinuma, Kazuie</creatorcontrib><creatorcontrib>Okino, Eizo</creatorcontrib><creatorcontrib>Maesaka, Hatae</creatorcontrib><creatorcontrib>Tada, Keiya</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>Pediatric neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Haginoya, Kazuhiro</au><au>Miyabayashi, Shigeaki</au><au>Iinuma, Kazuie</au><au>Okino, Eizo</au><au>Maesaka, Hatae</au><au>Tada, Keiya</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy</atitle><jtitle>Pediatric neurology</jtitle><addtitle>Pediatr Neurol</addtitle><date>1992</date><risdate>1992</risdate><volume>8</volume><issue>1</issue><spage>13</spage><epage>18</epage><pages>13-18</pages><issn>0887-8994</issn><eissn>1873-5150</eissn><abstract>Electron microscopic cytochemistry was used to evaluate the behavior of cytochrome c oxidase (COX) in cultured skin fibroblasts from 4 patients with decreased COX activity (Leigh encephalopathy, fatal infantile COX deficiency). In patients with Leigh encephalopathy, all mitochondria reacted to COX staining either equivocally or negatively, indicating that all mitochondria were abnormal in these patients. In 1 patient with fatal infantile COX deficiency, intercellular heterogeneity of mitochondria was observed by COX staining. In another patient with fatal infantile COX deficiency, intracellular heterogeneity of mitochondria was observed. Patients with Leigh encephalopathy appeared to have a different type of mitochondrial COX deficiency than those with fatal infantile COX deficiency. Our results suggest that these 2 diseases may result from different genetic mechanisms.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>1313674</pmid><doi>10.1016/0887-8994(92)90046-2</doi><tpages>6</tpages></addata></record> |
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| subjects | Acidosis, Lactic - enzymology Acidosis, Lactic - genetics Acidosis, Lactic - pathology Biological and medical sciences Brain - enzymology Brain - pathology Brain Diseases, Metabolic - enzymology Brain Diseases, Metabolic - genetics Brain Diseases, Metabolic - pathology Child Child, Preschool Cytochrome-c Oxidase Deficiency Electron Transport Complex IV - genetics Electron Transport Complex IV - physiology Female Humans Infant Infant, Newborn Leigh Disease - enzymology Leigh Disease - genetics Leigh Disease - pathology Male Medical sciences Microscopy, Electron Mitochondria, Muscle - enzymology Mitochondria, Muscle - ultrastructure Muscles - enzymology Muscles - pathology Nervous system (semeiology, syndromes) Neurology Neuromuscular Diseases - enzymology Neuromuscular Diseases - genetics Neuromuscular Diseases - pathology |
| title | Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy |
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