Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation
We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis identifi...
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| Veröffentlicht in: | Pediatric neurology 2002-11, Vol.27 (5), p.397-400 |
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| container_title | Pediatric neurology |
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| creator | Sakuta, Ryoichi Honzawa, Shiho Murakami, Nobuyuki Goto, Yuichi Nagai, Toshiro |
| description | We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis identified a heteroplasmic A to G point mutation in the tRNA(Lys) gene at position 8296. Skeletal muscle pathology revealed typical MELAS findings, including ragged-red fibers cytochrome c oxidase positive strongly succinate dehydrogenase-reactive blood vessels. Recent reports describe the 8296 mutation identified in patients with diabetes mellitus or myoclonus epilepsy with ragged-red fibers, not MELAS. We conclude that the 8296 mutation is likely to be pathogenic and that it may be not only a mutation responsible for diabetes mellitus or myoclonus epilepsy with ragged-red fibers but also for MELAS. |
| doi_str_mv | 10.1016/S0887-8994(02)00456-3 |
| format | Article |
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Skeletal muscle total mitochondrial DNA analysis identified a heteroplasmic A to G point mutation in the tRNA(Lys) gene at position 8296. Skeletal muscle pathology revealed typical MELAS findings, including ragged-red fibers cytochrome c oxidase positive strongly succinate dehydrogenase-reactive blood vessels. Recent reports describe the 8296 mutation identified in patients with diabetes mellitus or myoclonus epilepsy with ragged-red fibers, not MELAS. We conclude that the 8296 mutation is likely to be pathogenic and that it may be not only a mutation responsible for diabetes mellitus or myoclonus epilepsy with ragged-red fibers but also for MELAS.</description><identifier>ISSN: 0887-8994</identifier><identifier>DOI: 10.1016/S0887-8994(02)00456-3</identifier><identifier>PMID: 12504210</identifier><language>eng</language><publisher>United States</publisher><subject>Adolescent ; Biopsy ; Cardiomyopathies - diagnosis ; Cardiomyopathies - etiology ; Corpus Striatum - pathology ; DNA Mutational Analysis ; DNA, Mitochondrial - genetics ; Echocardiography ; Humans ; Magnetic Resonance Imaging ; Male ; MELAS Syndrome - diagnosis ; MELAS Syndrome - genetics ; MELAS Syndrome - pathology ; Muscle Fibers, Fast-Twitch - pathology ; Muscle, Skeletal - blood supply ; Muscle, Skeletal - pathology ; Optic Atrophy - diagnosis ; Optic Atrophy - etiology ; Point Mutation - genetics ; RNA, Transfer, Lys - genetics</subject><ispartof>Pediatric neurology, 2002-11, Vol.27 (5), p.397-400</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12504210$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sakuta, Ryoichi</creatorcontrib><creatorcontrib>Honzawa, Shiho</creatorcontrib><creatorcontrib>Murakami, Nobuyuki</creatorcontrib><creatorcontrib>Goto, Yuichi</creatorcontrib><creatorcontrib>Nagai, Toshiro</creatorcontrib><title>Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation</title><title>Pediatric neurology</title><addtitle>Pediatr Neurol</addtitle><description>We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis identified a heteroplasmic A to G point mutation in the tRNA(Lys) gene at position 8296. Skeletal muscle pathology revealed typical MELAS findings, including ragged-red fibers cytochrome c oxidase positive strongly succinate dehydrogenase-reactive blood vessels. Recent reports describe the 8296 mutation identified in patients with diabetes mellitus or myoclonus epilepsy with ragged-red fibers, not MELAS. We conclude that the 8296 mutation is likely to be pathogenic and that it may be not only a mutation responsible for diabetes mellitus or myoclonus epilepsy with ragged-red fibers but also for MELAS.</description><subject>Adolescent</subject><subject>Biopsy</subject><subject>Cardiomyopathies - diagnosis</subject><subject>Cardiomyopathies - etiology</subject><subject>Corpus Striatum - pathology</subject><subject>DNA Mutational Analysis</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Echocardiography</subject><subject>Humans</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>MELAS Syndrome - diagnosis</subject><subject>MELAS Syndrome - genetics</subject><subject>MELAS Syndrome - pathology</subject><subject>Muscle Fibers, Fast-Twitch - pathology</subject><subject>Muscle, Skeletal - blood supply</subject><subject>Muscle, Skeletal - pathology</subject><subject>Optic Atrophy - diagnosis</subject><subject>Optic Atrophy - etiology</subject><subject>Point Mutation - genetics</subject><subject>RNA, Transfer, Lys - genetics</subject><issn>0887-8994</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9z11LwzAYBeBcKG5Of4KSK9kuqm--2vSyyJxiVXC7L2mSuki_bFJk_96C06sDh4cDB6ErArcESHy3BSmTSKYpXwJdAXARR-wEzf_rGTr3_hMAREr5GZoRKoBTAnP0nIVD77Sq8cs6z7ZYed9pp4I1-NuFPW5c6PS-a83gJhPeX7NlfvAr_GFbizNJ03iDmzGo4Lr2Ap1Wqvb28pgLtHtY7-4fo_xt83Sf5VFPIQmRULxSjEoqjNEmKYUWxLLUyFhWCgxTFfCKG6VLzuJSp6mZCOOxnBpNK7ZAN7-z_dB9jdaHonFe27pWre1GXyRUEmCMTPD6CMeysaboB9eo4VD8vWc_qSJarA</recordid><startdate>200211</startdate><enddate>200211</enddate><creator>Sakuta, Ryoichi</creator><creator>Honzawa, Shiho</creator><creator>Murakami, Nobuyuki</creator><creator>Goto, Yuichi</creator><creator>Nagai, Toshiro</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200211</creationdate><title>Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation</title><author>Sakuta, Ryoichi ; Honzawa, Shiho ; Murakami, Nobuyuki ; Goto, Yuichi ; Nagai, Toshiro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p207t-5a4fa32825ddcd7b5c51e39d868fa0d3af04f4dacb436bc99db5c3468acbc2f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adolescent</topic><topic>Biopsy</topic><topic>Cardiomyopathies - diagnosis</topic><topic>Cardiomyopathies - etiology</topic><topic>Corpus Striatum - pathology</topic><topic>DNA Mutational Analysis</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Echocardiography</topic><topic>Humans</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>MELAS Syndrome - diagnosis</topic><topic>MELAS Syndrome - genetics</topic><topic>MELAS Syndrome - pathology</topic><topic>Muscle Fibers, Fast-Twitch - pathology</topic><topic>Muscle, Skeletal - blood supply</topic><topic>Muscle, Skeletal - pathology</topic><topic>Optic Atrophy - diagnosis</topic><topic>Optic Atrophy - etiology</topic><topic>Point Mutation - genetics</topic><topic>RNA, Transfer, Lys - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sakuta, Ryoichi</creatorcontrib><creatorcontrib>Honzawa, Shiho</creatorcontrib><creatorcontrib>Murakami, Nobuyuki</creatorcontrib><creatorcontrib>Goto, Yuichi</creatorcontrib><creatorcontrib>Nagai, Toshiro</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sakuta, Ryoichi</au><au>Honzawa, Shiho</au><au>Murakami, Nobuyuki</au><au>Goto, Yuichi</au><au>Nagai, Toshiro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation</atitle><jtitle>Pediatric neurology</jtitle><addtitle>Pediatr Neurol</addtitle><date>2002-11</date><risdate>2002</risdate><volume>27</volume><issue>5</issue><spage>397</spage><epage>400</epage><pages>397-400</pages><issn>0887-8994</issn><abstract>We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis identified a heteroplasmic A to G point mutation in the tRNA(Lys) gene at position 8296. Skeletal muscle pathology revealed typical MELAS findings, including ragged-red fibers cytochrome c oxidase positive strongly succinate dehydrogenase-reactive blood vessels. Recent reports describe the 8296 mutation identified in patients with diabetes mellitus or myoclonus epilepsy with ragged-red fibers, not MELAS. We conclude that the 8296 mutation is likely to be pathogenic and that it may be not only a mutation responsible for diabetes mellitus or myoclonus epilepsy with ragged-red fibers but also for MELAS.</abstract><cop>United States</cop><pmid>12504210</pmid><doi>10.1016/S0887-8994(02)00456-3</doi><tpages>4</tpages></addata></record> |
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| subjects | Adolescent Biopsy Cardiomyopathies - diagnosis Cardiomyopathies - etiology Corpus Striatum - pathology DNA Mutational Analysis DNA, Mitochondrial - genetics Echocardiography Humans Magnetic Resonance Imaging Male MELAS Syndrome - diagnosis MELAS Syndrome - genetics MELAS Syndrome - pathology Muscle Fibers, Fast-Twitch - pathology Muscle, Skeletal - blood supply Muscle, Skeletal - pathology Optic Atrophy - diagnosis Optic Atrophy - etiology Point Mutation - genetics RNA, Transfer, Lys - genetics |
| title | Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation |
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