Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications
OBJECTIVES:To determine the value of fibroblast growth factor 21 (FGF21), a recently discovered biomarker for mitochondrial disease, in predicting clinical disease severity and disease progression in adult carriers of the m.3243A>G mutation. METHODS:In the context of a national inventory, the het...
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| Veröffentlicht in: | Neurology 2014-07, Vol.83 (2), p.125-133 |
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| creator | Koene, Saskia de Laat, Paul van Tienoven, Doorlène H Vriens, Dennis Brandt, André M Sweep, Fred C.G.J Rodenburg, Richard J.T Donders, A. Rogier T Janssen, Mirian C.H Smeitink, Jan A.M |
| description | OBJECTIVES:To determine the value of fibroblast growth factor 21 (FGF21), a recently discovered biomarker for mitochondrial disease, in predicting clinical disease severity and disease progression in adult carriers of the m.3243A>G mutation.
METHODS:In the context of a national inventory, the heteroplasmy levels of the m.3243A>G mutation were measured in leukocytes and urinary epithelial cells. The Newcastle Mitochondrial Disease Adult Scale score was determined and blood was drawn for measuring FGF21 concentration. Twenty-five of the included initial patients studied were then selected randomly for a follow-up study.
RESULTS:This prognostic study included 99 adult carriers of the m.3243A>G mutation. Our analysis revealed a moderate, significant correlation between FGF21 concentration and disease severity (r = 0.49; p = |
| doi_str_mv | 10.1212/WNL.0000000000000578 |
| format | Article |
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METHODS:In the context of a national inventory, the heteroplasmy levels of the m.3243A>G mutation were measured in leukocytes and urinary epithelial cells. The Newcastle Mitochondrial Disease Adult Scale score was determined and blood was drawn for measuring FGF21 concentration. Twenty-five of the included initial patients studied were then selected randomly for a follow-up study.
RESULTS:This prognostic study included 99 adult carriers of the m.3243A>G mutation. Our analysis revealed a moderate, significant correlation between FGF21 concentration and disease severity (r = 0.49; p = <0.001). No significant correlations were found between disease severity and the heteroplasmy percentage determined in urinary epithelial cells or the heteroplasmy percentage determined in leukocytes. Weak but significant correlations were also found between FGF21 concentration and the severity of the myopathy (r = 0.38; p = <0.001) and between the concentration of FGF21 and the severity of the encephalopathy (r = 0.30; p = <0.001). Repeated measurements following 25 subjects for 2 years revealed no significant correlation between FGF21 concentration and disease progression.
CONCLUSIONS:Measuring FGF21 concentration had little added value in monitoring and predicting the disease course in this specific patient group.</description><identifier>ISSN: 0028-3878</identifier><identifier>EISSN: 1526-632X</identifier><identifier>DOI: 10.1212/WNL.0000000000000578</identifier><identifier>PMID: 24907231</identifier><identifier>CODEN: NEURAI</identifier><language>eng</language><publisher>Hagerstown, MD: American Academy of Neurology</publisher><subject>Adult ; Biological and medical sciences ; Biomarkers - blood ; Cohort Studies ; Disease Progression ; Female ; Fibroblast Growth Factors - blood ; Fibroblast Growth Factors - genetics ; Follow-Up Studies ; Heterozygote ; Humans ; Injuries of the nervous system and the skull. Diseases due to physical agents ; Leukocytes - chemistry ; Male ; Medical sciences ; Mitochondrial Diseases - blood ; Mitochondrial Diseases - genetics ; Mitochondrial Encephalomyopathies - blood ; Mitochondrial Encephalomyopathies - genetics ; Mitochondrial Myopathies - blood ; Mitochondrial Myopathies - genetics ; Mutation - genetics ; Neurology ; Prognosis ; Traumas. Diseases due to physical agents</subject><ispartof>Neurology, 2014-07, Vol.83 (2), p.125-133</ispartof><rights>2014 American Academy of Neurology</rights><rights>2015 INIST-CNRS</rights><rights>2014 American Academy of Neurology.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3688-fd4365127676d7de9292f86ef6f00d0c02de3af254f53ca83c966cef3f75c3b13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=28602037$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24907231$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Koene, Saskia</creatorcontrib><creatorcontrib>de Laat, Paul</creatorcontrib><creatorcontrib>van Tienoven, Doorlène H</creatorcontrib><creatorcontrib>Vriens, Dennis</creatorcontrib><creatorcontrib>Brandt, André M</creatorcontrib><creatorcontrib>Sweep, Fred C.G.J</creatorcontrib><creatorcontrib>Rodenburg, Richard J.T</creatorcontrib><creatorcontrib>Donders, A. Rogier T</creatorcontrib><creatorcontrib>Janssen, Mirian C.H</creatorcontrib><creatorcontrib>Smeitink, Jan A.M</creatorcontrib><title>Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications</title><title>Neurology</title><addtitle>Neurology</addtitle><description>OBJECTIVES:To determine the value of fibroblast growth factor 21 (FGF21), a recently discovered biomarker for mitochondrial disease, in predicting clinical disease severity and disease progression in adult carriers of the m.3243A>G mutation.
METHODS:In the context of a national inventory, the heteroplasmy levels of the m.3243A>G mutation were measured in leukocytes and urinary epithelial cells. The Newcastle Mitochondrial Disease Adult Scale score was determined and blood was drawn for measuring FGF21 concentration. Twenty-five of the included initial patients studied were then selected randomly for a follow-up study.
RESULTS:This prognostic study included 99 adult carriers of the m.3243A>G mutation. Our analysis revealed a moderate, significant correlation between FGF21 concentration and disease severity (r = 0.49; p = <0.001). No significant correlations were found between disease severity and the heteroplasmy percentage determined in urinary epithelial cells or the heteroplasmy percentage determined in leukocytes. Weak but significant correlations were also found between FGF21 concentration and the severity of the myopathy (r = 0.38; p = <0.001) and between the concentration of FGF21 and the severity of the encephalopathy (r = 0.30; p = <0.001). Repeated measurements following 25 subjects for 2 years revealed no significant correlation between FGF21 concentration and disease progression.
CONCLUSIONS:Measuring FGF21 concentration had little added value in monitoring and predicting the disease course in this specific patient group.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Biomarkers - blood</subject><subject>Cohort Studies</subject><subject>Disease Progression</subject><subject>Female</subject><subject>Fibroblast Growth Factors - blood</subject><subject>Fibroblast Growth Factors - genetics</subject><subject>Follow-Up Studies</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Injuries of the nervous system and the skull. Diseases due to physical agents</subject><subject>Leukocytes - chemistry</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mitochondrial Diseases - blood</subject><subject>Mitochondrial Diseases - genetics</subject><subject>Mitochondrial Encephalomyopathies - blood</subject><subject>Mitochondrial Encephalomyopathies - genetics</subject><subject>Mitochondrial Myopathies - blood</subject><subject>Mitochondrial Myopathies - genetics</subject><subject>Mutation - genetics</subject><subject>Neurology</subject><subject>Prognosis</subject><subject>Traumas. Diseases due to physical agents</subject><issn>0028-3878</issn><issn>1526-632X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtLxDAQgIMouj7-gUgvgpeuSaZ51IMgi7sKix5U9FayacJG03ZNWsV_b2XXBx50LjMw3zz4ENoneEgoocf3V9Mh_hlMyDU0IIzylAN9WEcDjKlMQQq5hbZjfMS4b4p8E23RLMeCAhmg8xsTuioZT8aUJN68GB8TVyeq7HybVEOgGZydThKtQnAmxJNk5F3ttPKJqxa-L1rX1HEXbVjlo9lb5R10Nz6_HV2k0-vJ5ehsmmrgUqa2zIAzQgUXvBSlyWlOreTGcotxiTWmpQFlKcssA60k6JxzbSxYwTTMCOygo-XeRWieOxPbonJRG-9VbZouFoQDwyCpFP-jLIM8ZziHHs2WqA5NjMHYYhFcpcJbQXDx4broXRe_XfdjB6sL3awy5dfQp9weOFwBKvbGbFC1dvGbkxxTDB-vyiX32vi2l_zku1cTirlRvp3__cM7rTGUgQ</recordid><startdate>20140708</startdate><enddate>20140708</enddate><creator>Koene, Saskia</creator><creator>de Laat, Paul</creator><creator>van Tienoven, Doorlène H</creator><creator>Vriens, Dennis</creator><creator>Brandt, André M</creator><creator>Sweep, Fred C.G.J</creator><creator>Rodenburg, Richard J.T</creator><creator>Donders, A. Rogier T</creator><creator>Janssen, Mirian C.H</creator><creator>Smeitink, Jan A.M</creator><general>American Academy of Neurology</general><general>Lippincott Williams & Wilkins</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><scope>7TK</scope></search><sort><creationdate>20140708</creationdate><title>Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications</title><author>Koene, Saskia ; de Laat, Paul ; van Tienoven, Doorlène H ; Vriens, Dennis ; Brandt, André M ; Sweep, Fred C.G.J ; Rodenburg, Richard J.T ; Donders, A. Rogier T ; Janssen, Mirian C.H ; Smeitink, Jan A.M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3688-fd4365127676d7de9292f86ef6f00d0c02de3af254f53ca83c966cef3f75c3b13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Biomarkers - blood</topic><topic>Cohort Studies</topic><topic>Disease Progression</topic><topic>Female</topic><topic>Fibroblast Growth Factors - blood</topic><topic>Fibroblast Growth Factors - genetics</topic><topic>Follow-Up Studies</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Injuries of the nervous system and the skull. Diseases due to physical agents</topic><topic>Leukocytes - chemistry</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mitochondrial Diseases - blood</topic><topic>Mitochondrial Diseases - genetics</topic><topic>Mitochondrial Encephalomyopathies - blood</topic><topic>Mitochondrial Encephalomyopathies - genetics</topic><topic>Mitochondrial Myopathies - blood</topic><topic>Mitochondrial Myopathies - genetics</topic><topic>Mutation - genetics</topic><topic>Neurology</topic><topic>Prognosis</topic><topic>Traumas. Diseases due to physical agents</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Koene, Saskia</creatorcontrib><creatorcontrib>de Laat, Paul</creatorcontrib><creatorcontrib>van Tienoven, Doorlène H</creatorcontrib><creatorcontrib>Vriens, Dennis</creatorcontrib><creatorcontrib>Brandt, André M</creatorcontrib><creatorcontrib>Sweep, Fred C.G.J</creatorcontrib><creatorcontrib>Rodenburg, Richard J.T</creatorcontrib><creatorcontrib>Donders, A. Rogier T</creatorcontrib><creatorcontrib>Janssen, Mirian C.H</creatorcontrib><creatorcontrib>Smeitink, Jan A.M</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><collection>Neurosciences Abstracts</collection><jtitle>Neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Koene, Saskia</au><au>de Laat, Paul</au><au>van Tienoven, Doorlène H</au><au>Vriens, Dennis</au><au>Brandt, André M</au><au>Sweep, Fred C.G.J</au><au>Rodenburg, Richard J.T</au><au>Donders, A. Rogier T</au><au>Janssen, Mirian C.H</au><au>Smeitink, Jan A.M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications</atitle><jtitle>Neurology</jtitle><addtitle>Neurology</addtitle><date>2014-07-08</date><risdate>2014</risdate><volume>83</volume><issue>2</issue><spage>125</spage><epage>133</epage><pages>125-133</pages><issn>0028-3878</issn><eissn>1526-632X</eissn><coden>NEURAI</coden><abstract>OBJECTIVES:To determine the value of fibroblast growth factor 21 (FGF21), a recently discovered biomarker for mitochondrial disease, in predicting clinical disease severity and disease progression in adult carriers of the m.3243A>G mutation.
METHODS:In the context of a national inventory, the heteroplasmy levels of the m.3243A>G mutation were measured in leukocytes and urinary epithelial cells. The Newcastle Mitochondrial Disease Adult Scale score was determined and blood was drawn for measuring FGF21 concentration. Twenty-five of the included initial patients studied were then selected randomly for a follow-up study.
RESULTS:This prognostic study included 99 adult carriers of the m.3243A>G mutation. Our analysis revealed a moderate, significant correlation between FGF21 concentration and disease severity (r = 0.49; p = <0.001). No significant correlations were found between disease severity and the heteroplasmy percentage determined in urinary epithelial cells or the heteroplasmy percentage determined in leukocytes. Weak but significant correlations were also found between FGF21 concentration and the severity of the myopathy (r = 0.38; p = <0.001) and between the concentration of FGF21 and the severity of the encephalopathy (r = 0.30; p = <0.001). Repeated measurements following 25 subjects for 2 years revealed no significant correlation between FGF21 concentration and disease progression.
CONCLUSIONS:Measuring FGF21 concentration had little added value in monitoring and predicting the disease course in this specific patient group.</abstract><cop>Hagerstown, MD</cop><pub>American Academy of Neurology</pub><pmid>24907231</pmid><doi>10.1212/WNL.0000000000000578</doi><tpages>9</tpages></addata></record> |
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| ispartof | Neurology, 2014-07, Vol.83 (2), p.125-133 |
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| subjects | Adult Biological and medical sciences Biomarkers - blood Cohort Studies Disease Progression Female Fibroblast Growth Factors - blood Fibroblast Growth Factors - genetics Follow-Up Studies Heterozygote Humans Injuries of the nervous system and the skull. Diseases due to physical agents Leukocytes - chemistry Male Medical sciences Mitochondrial Diseases - blood Mitochondrial Diseases - genetics Mitochondrial Encephalomyopathies - blood Mitochondrial Encephalomyopathies - genetics Mitochondrial Myopathies - blood Mitochondrial Myopathies - genetics Mutation - genetics Neurology Prognosis Traumas. Diseases due to physical agents |
| title | Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications |
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