Ethambutol toxicity exacerbating the phenotype of CMT2A2
ABSTRACT Introduction: CMT2A2 is associated with mutations in the mitofusin 2 gene, which encodes a protein involved in mitochondrial fusion. Ethambutol is an antimycobacterial agent associated with toxic optic neuropathies. Ethambutol‐induced optic neuropathy occurs in patients with mutations in a...
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| Veröffentlicht in: | Muscle & nerve 2013-07, Vol.48 (1), p.140-144 |
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| creator | Fonkem, Ekokobe Skordilis, Monica A. Binkley, Elaine M. Raymer, David S. Epstein, Avrom Arnold, W. David Kissel, John T. Lawson, Victoria H. |
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Introduction: CMT2A2 is associated with mutations in the mitofusin 2 gene, which encodes a protein involved in mitochondrial fusion. Ethambutol is an antimycobacterial agent associated with toxic optic neuropathies. Ethambutol‐induced optic neuropathy occurs in patients with mutations in a related fusion gene, OPA1, which is responsible for autosomal dominant optic atrophy. Methods: We describe a patient with CMT2A2 (MFN2 mutation: T669G, F223L) who developed accelerated weakness, vocal cord paralysis, and optic atrophy after receiving ethambutol. Results: Deterioration began within months of initiating ethambutol therapy. After discontinuation of ethambutol, neurologic deterioration stabilized with subsequent improvement in visual fields. Conclusions: CMT2A2 is part of a group of genetic disorders which share an association with the process of mitochondrial fusion. This case shows that patients with CMT2A2, and possibly other mitochondrial fusion defects, may be uniquely susceptible to ethambutol‐induced neurotoxicity. This has implications regarding the underlying pathophysiology of mitochondrial fusion defects. Muscle Nerve, 2013 |
| doi_str_mv | 10.1002/mus.23766 |
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Introduction: CMT2A2 is associated with mutations in the mitofusin 2 gene, which encodes a protein involved in mitochondrial fusion. Ethambutol is an antimycobacterial agent associated with toxic optic neuropathies. Ethambutol‐induced optic neuropathy occurs in patients with mutations in a related fusion gene, OPA1, which is responsible for autosomal dominant optic atrophy. Methods: We describe a patient with CMT2A2 (MFN2 mutation: T669G, F223L) who developed accelerated weakness, vocal cord paralysis, and optic atrophy after receiving ethambutol. Results: Deterioration began within months of initiating ethambutol therapy. After discontinuation of ethambutol, neurologic deterioration stabilized with subsequent improvement in visual fields. Conclusions: CMT2A2 is part of a group of genetic disorders which share an association with the process of mitochondrial fusion. This case shows that patients with CMT2A2, and possibly other mitochondrial fusion defects, may be uniquely susceptible to ethambutol‐induced neurotoxicity. This has implications regarding the underlying pathophysiology of mitochondrial fusion defects. Muscle Nerve, 2013</description><identifier>ISSN: 0148-639X</identifier><identifier>EISSN: 1097-4598</identifier><identifier>DOI: 10.1002/mus.23766</identifier><identifier>PMID: 23733358</identifier><identifier>CODEN: MUNEDE</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Antimycobacterial agents ; Charcot-Marie-Tooth Disease - chemically induced ; Charcot-Marie-Tooth Disease - diagnosis ; Charcot-Marie-Tooth Disease - genetics ; CMT ; ethambutol ; Ethambutol - adverse effects ; Female ; Genotype & phenotype ; Humans ; Middle Aged ; mitochondria ; Mitochondrial DNA ; mitofusin ; Mutation ; neurotoxicity ; Phenotype ; Toxicity</subject><ispartof>Muscle & nerve, 2013-07, Vol.48 (1), p.140-144</ispartof><rights>Copyright © 2013 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4246-83ddd1dcff385dbd9eaba9f3c583ced8d6a88a64950fe5ee38b81e896523ca2a3</citedby><cites>FETCH-LOGICAL-c4246-83ddd1dcff385dbd9eaba9f3c583ced8d6a88a64950fe5ee38b81e896523ca2a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmus.23766$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmus.23766$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,781,785,1418,27929,27930,45579,45580</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23733358$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fonkem, Ekokobe</creatorcontrib><creatorcontrib>Skordilis, Monica A.</creatorcontrib><creatorcontrib>Binkley, Elaine M.</creatorcontrib><creatorcontrib>Raymer, David S.</creatorcontrib><creatorcontrib>Epstein, Avrom</creatorcontrib><creatorcontrib>Arnold, W. David</creatorcontrib><creatorcontrib>Kissel, John T.</creatorcontrib><creatorcontrib>Lawson, Victoria H.</creatorcontrib><title>Ethambutol toxicity exacerbating the phenotype of CMT2A2</title><title>Muscle & nerve</title><addtitle>Muscle Nerve</addtitle><description>ABSTRACT
Introduction: CMT2A2 is associated with mutations in the mitofusin 2 gene, which encodes a protein involved in mitochondrial fusion. Ethambutol is an antimycobacterial agent associated with toxic optic neuropathies. Ethambutol‐induced optic neuropathy occurs in patients with mutations in a related fusion gene, OPA1, which is responsible for autosomal dominant optic atrophy. Methods: We describe a patient with CMT2A2 (MFN2 mutation: T669G, F223L) who developed accelerated weakness, vocal cord paralysis, and optic atrophy after receiving ethambutol. Results: Deterioration began within months of initiating ethambutol therapy. After discontinuation of ethambutol, neurologic deterioration stabilized with subsequent improvement in visual fields. Conclusions: CMT2A2 is part of a group of genetic disorders which share an association with the process of mitochondrial fusion. This case shows that patients with CMT2A2, and possibly other mitochondrial fusion defects, may be uniquely susceptible to ethambutol‐induced neurotoxicity. This has implications regarding the underlying pathophysiology of mitochondrial fusion defects. Muscle Nerve, 2013</description><subject>Antimycobacterial agents</subject><subject>Charcot-Marie-Tooth Disease - chemically induced</subject><subject>Charcot-Marie-Tooth Disease - diagnosis</subject><subject>Charcot-Marie-Tooth Disease - genetics</subject><subject>CMT</subject><subject>ethambutol</subject><subject>Ethambutol - adverse effects</subject><subject>Female</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Middle Aged</subject><subject>mitochondria</subject><subject>Mitochondrial DNA</subject><subject>mitofusin</subject><subject>Mutation</subject><subject>neurotoxicity</subject><subject>Phenotype</subject><subject>Toxicity</subject><issn>0148-639X</issn><issn>1097-4598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10DtPwzAUhmELgaBcBv4AisQCQ4rvdkZUlYtEQeIi2CzHPqGBpCmxI9p_T6DAgMTk5TmfrBehfYKHBGN6UndhSJmScg0NCM5UykWm19EAE65TybKnLbQdwgvGmGipNtFWjxljQg-QHseprfMuNlUSm0XpyrhMYGEdtLmN5ew5iVNI5lOYNXE5h6QpktHknp7SXbRR2CrA3ve7gx7Oxveji_Tq5vxydHqVOk65TDXz3hPvioJp4XOfgc1tVjAnNHPgtZdWayt5JnABAoDpXBPQmRSUOUst20FHq91527x1EKKpy-CgquwMmi4YwjMqCadU9fTwD31punbW_84QpjDlfRbRq-OVcm0TQguFmbdlbdulIdh85jR9TvOVs7cH34tdXoP_lT_9enCyAu9lBcv_l8zk4e5nMl1dlCHC4vfCtq9GKqaEebw-N-pRq6dbfmEU-wCp1Y05</recordid><startdate>201307</startdate><enddate>201307</enddate><creator>Fonkem, Ekokobe</creator><creator>Skordilis, Monica A.</creator><creator>Binkley, Elaine M.</creator><creator>Raymer, David S.</creator><creator>Epstein, Avrom</creator><creator>Arnold, W. David</creator><creator>Kissel, John T.</creator><creator>Lawson, Victoria H.</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</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>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>7TS</scope><scope>7U7</scope><scope>7U9</scope><scope>C1K</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope></search><sort><creationdate>201307</creationdate><title>Ethambutol toxicity exacerbating the phenotype of CMT2A2</title><author>Fonkem, Ekokobe ; Skordilis, Monica A. ; Binkley, Elaine M. ; Raymer, David S. ; Epstein, Avrom ; Arnold, W. David ; Kissel, John T. ; Lawson, Victoria H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4246-83ddd1dcff385dbd9eaba9f3c583ced8d6a88a64950fe5ee38b81e896523ca2a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Antimycobacterial agents</topic><topic>Charcot-Marie-Tooth Disease - chemically induced</topic><topic>Charcot-Marie-Tooth Disease - diagnosis</topic><topic>Charcot-Marie-Tooth Disease - genetics</topic><topic>CMT</topic><topic>ethambutol</topic><topic>Ethambutol - adverse effects</topic><topic>Female</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>Middle Aged</topic><topic>mitochondria</topic><topic>Mitochondrial DNA</topic><topic>mitofusin</topic><topic>Mutation</topic><topic>neurotoxicity</topic><topic>Phenotype</topic><topic>Toxicity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fonkem, Ekokobe</creatorcontrib><creatorcontrib>Skordilis, Monica A.</creatorcontrib><creatorcontrib>Binkley, Elaine M.</creatorcontrib><creatorcontrib>Raymer, David S.</creatorcontrib><creatorcontrib>Epstein, Avrom</creatorcontrib><creatorcontrib>Arnold, W. David</creatorcontrib><creatorcontrib>Kissel, John T.</creatorcontrib><creatorcontrib>Lawson, Victoria H.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Physical Education Index</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><jtitle>Muscle & nerve</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fonkem, Ekokobe</au><au>Skordilis, Monica A.</au><au>Binkley, Elaine M.</au><au>Raymer, David S.</au><au>Epstein, Avrom</au><au>Arnold, W. David</au><au>Kissel, John T.</au><au>Lawson, Victoria H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ethambutol toxicity exacerbating the phenotype of CMT2A2</atitle><jtitle>Muscle & nerve</jtitle><addtitle>Muscle Nerve</addtitle><date>2013-07</date><risdate>2013</risdate><volume>48</volume><issue>1</issue><spage>140</spage><epage>144</epage><pages>140-144</pages><issn>0148-639X</issn><eissn>1097-4598</eissn><coden>MUNEDE</coden><abstract>ABSTRACT
Introduction: CMT2A2 is associated with mutations in the mitofusin 2 gene, which encodes a protein involved in mitochondrial fusion. Ethambutol is an antimycobacterial agent associated with toxic optic neuropathies. Ethambutol‐induced optic neuropathy occurs in patients with mutations in a related fusion gene, OPA1, which is responsible for autosomal dominant optic atrophy. Methods: We describe a patient with CMT2A2 (MFN2 mutation: T669G, F223L) who developed accelerated weakness, vocal cord paralysis, and optic atrophy after receiving ethambutol. Results: Deterioration began within months of initiating ethambutol therapy. After discontinuation of ethambutol, neurologic deterioration stabilized with subsequent improvement in visual fields. Conclusions: CMT2A2 is part of a group of genetic disorders which share an association with the process of mitochondrial fusion. This case shows that patients with CMT2A2, and possibly other mitochondrial fusion defects, may be uniquely susceptible to ethambutol‐induced neurotoxicity. This has implications regarding the underlying pathophysiology of mitochondrial fusion defects. Muscle Nerve, 2013</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>23733358</pmid><doi>10.1002/mus.23766</doi><tpages>5</tpages></addata></record> |
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| subjects | Antimycobacterial agents Charcot-Marie-Tooth Disease - chemically induced Charcot-Marie-Tooth Disease - diagnosis Charcot-Marie-Tooth Disease - genetics CMT ethambutol Ethambutol - adverse effects Female Genotype & phenotype Humans Middle Aged mitochondria Mitochondrial DNA mitofusin Mutation neurotoxicity Phenotype Toxicity |
| title | Ethambutol toxicity exacerbating the phenotype of CMT2A2 |
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