CPEO

出典: meddic

慢性進行性外眼筋麻痺, chronic progressive external ophthalmoplegia, progressive external ophthalmoplegia, 慢性進行性外眼筋麻痺症候群

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/05/15 08:05:12」(JST)

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英文文献

  • Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
  • Pfeffer G1, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF.Author information 11 Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.AbstractDespite being a canonical presenting feature of mitochondrial disease, the genetic basis of progressive external ophthalmoplegia remains unknown in a large proportion of patients. Here we show that mutations in SPG7 are a novel cause of progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions. After excluding known causes, whole exome sequencing, targeted Sanger sequencing and multiplex ligation-dependent probe amplification analysis were used to study 68 adult patients with progressive external ophthalmoplegia either with or without multiple mitochondrial DNA deletions in skeletal muscle. Nine patients (eight probands) were found to carry compound heterozygous SPG7 mutations, including three novel mutations: two missense mutations c.2221G>A; p.(Glu741Lys), c.2224G>A; p.(Asp742Asn), a truncating mutation c.861dupT; p.Asn288*, and seven previously reported mutations. We identified a further six patients with single heterozygous mutations in SPG7, including two further novel mutations: c.184-3C>T (predicted to remove a splice site before exon 2) and c.1067C>T; p.(Thr356Met). The clinical phenotype typically developed in mid-adult life with either progressive external ophthalmoplegia/ptosis and spastic ataxia, or a progressive ataxic disorder. Dysphagia and proximal myopathy were common, but urinary symptoms were rare, despite the spasticity. Functional studies included transcript analysis, proteomics, mitochondrial network analysis, single fibre mitochondrial DNA analysis and deep re-sequencing of mitochondrial DNA. SPG7 mutations caused increased mitochondrial biogenesis in patient muscle, and mitochondrial fusion in patient fibroblasts associated with the clonal expansion of mitochondrial DNA mutations. In conclusion, the SPG7 gene should be screened in patients in whom a disorder of mitochondrial DNA maintenance is suspected when spastic ataxia is prominent. The complex neurological phenotype is likely a result of the clonal expansion of secondary mitochondrial DNA mutations modulating the phenotype, driven by compensatory mitochondrial biogenesis.
  • Brain : a journal of neurology.Brain.2014 Apr 10. [Epub ahead of print]
  • Despite being a canonical presenting feature of mitochondrial disease, the genetic basis of progressive external ophthalmoplegia remains unknown in a large proportion of patients. Here we show that mutations in SPG7 are a novel cause of progressive external ophthalmoplegia associated with multiple m
  • PMID 24727571
  • Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations.
  • Gammage PA1, Rorbach J, Vincent AI, Rebar EJ, Minczuk M.Author information 1Medical Research Council, Mitochondrial Biology Unit, Cambridge, UK.AbstractWe designed and engineered mitochondrially targeted obligate heterodimeric zinc finger nucleases (mtZFNs) for site-specific elimination of pathogenic human mitochondrial DNA (mtDNA). We used mtZFNs to target and cleave mtDNA harbouring the m.8993T>G point mutation associated with neuropathy, ataxia, retinitis pigmentosa (NARP) and the "common deletion" (CD), a 4977-bp repeat-flanked deletion associated with adult-onset chronic progressive external ophthalmoplegia and, less frequently, Kearns-Sayre and Pearson's marrow pancreas syndromes. Expression of mtZFNs led to a reduction in mutant mtDNA haplotype load, and subsequent repopulation of wild-type mtDNA restored mitochondrial respiratory function in a CD cybrid cell model. This study constitutes proof-of-principle that, through heteroplasmy manipulation, delivery of site-specific nuclease activity to mitochondria can alleviate a severe biochemical phenotype in primary mitochondrial disease arising from deleted mtDNA species.
  • EMBO molecular medicine.EMBO Mol Med.2014 Apr 1;6(4):458-66. doi: 10.1002/emmm.201303672. Epub 2014 Feb 24.
  • We designed and engineered mitochondrially targeted obligate heterodimeric zinc finger nucleases (mtZFNs) for site-specific elimination of pathogenic human mitochondrial DNA (mtDNA). We used mtZFNs to target and cleave mtDNA harbouring the m.8993T>G point mutation associated with neuropathy, atax
  • PMID 24567072
  • High Cytochrome c Oxidase Expression Links to Severe Skeletal Energy Failure by 31 P-MRS Spectroscopy in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
  • Liu AH1, Niu FN, Chang LL, Zhang B, Liu Z, Chen JY, Zhou Q, Wu HY, Xu Y.Author information 1Department of Neurology, Drum Tower Hospital of Nanjing Medical University, Nanjing, China.AbstractAIMS: The purpose of this study was to evaluate the energy metabolism and mitochondrial function in skeletal muscle from patients with Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) or chronic progressive external ophthalmoplegia (CPEO) using phosphorus magnetic resonance spectroscopy (31 P-MRS), to determine whether abnormally increasing cytochrome c oxidase (COX), as detected in muscle biopsy, could be a cause for MELAS.
  • CNS neuroscience & therapeutics.CNS Neurosci Ther.2014 Mar 27. doi: 10.1111/cns.12257. [Epub ahead of print]
  • AIMS: The purpose of this study was to evaluate the energy metabolism and mitochondrial function in skeletal muscle from patients with Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) or chronic progressive external ophthalmoplegia (CPEO) using phosphorus magnetic r
  • PMID 24674659

和文文献

  • ミトコンドリア遺伝子異常と内耳障害
  • 山岨 達也
  • 耳鼻咽喉科臨床 104(8), 533-540, 2011-08-01
  • … Mitochondrial DNA lesions are closely associated with sensorineural hearing loss in approximately 70% of the three most common mitochondrial disorders: MELAS, MERRF, and CPEO. …
  • NAID 10029260261
  • An autopsy case of chronic progressive external ophthalmoplegia with renal insufficiency
  • YURI Takashi,KONDO Yaeko,KOHNO Keiko,LEI Yen-Chang,KANEMATSU Seika,KUWATA Maki,IWASAKA Toshiji,TSUBURA Airo
  • Medical molecular morphology : official journal of the Japanese Society for Clinical Molecular Morphology 41(4), 233-237, 2008-12-01
  • NAID 10025859458
  • Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions
  • YAMASHITA Shintaro,NISHINO Ichizo,NONAKA Ikuya,GOTO Yu-ichi
  • Journal of human genetics 53(7), 598-606, 2008-07-01
  • NAID 10021249625

関連リンク

CPEO (Chronic progressive external ophthalmoplegia). ・疾患の概要 外眼筋麻痺 の症状をもつ患者群を通常、単に慢性進行性外眼筋麻痺症候群(chronic progressive external ophthalmoplegia: CPEO)と称している。眼瞼下垂及び外眼筋麻痺、心伝導 ...
また欠失/重複もヘテロプラスミーで同定され、慢性進行性外眼筋麻痺症候群(CPEO )となることが多い。 一方、点変異がホモプラスミーで認められる事が多い疾患にLeigh 脳症やレーバー遺伝性視神経萎縮症がある。ただし、Leigh脳症の大部分(8割)は、 ...

関連画像

http://www.polyu.edu.hk/cpeo/cpc/index.phpCPEO: chronic progressive external http://www.polyu.edu.hk/cpeo/jca/index.php ://www.polyu.edu.hk/cpeo/ccst/index.php, Chronic Progressive External (CPEO CPEo-lte 7210 - outdoor


★リンクテーブル★
先読み慢性進行性外眼筋麻痺」「progressive external ophthalmoplegia
リンク元ミトコンドリアミオパチー」「ミトコンドリア脳筋症」「慢性進行性外眼筋麻痺症候群」「進行性外眼筋麻痺」「chronic progressive external ophthalmoplegia
関連記事CP」「CPE

慢性進行性外眼筋麻痺」

  [★] 慢性進行性外眼筋麻痺症候群

progressive external ophthalmoplegia」

  [★] 進行性外眼筋麻痺PEO

ミトコンドリアミオパチー」

  [★]

mitochondrial myopathy
ミトコンドリア筋症ミトコンドリアミオパシー

症状

  • 筋力低下、何らかの中枢神経症状、低身長

主要疾患

  • 症状:外眼筋麻痺
  • 病因:mt DNAの欠失。遺伝性・先天性
  • 2. myoclonus eplilepsy associated with ragged-red fibers MELAS メラス
  • 小児期に発症
  • 症状:突然起こる頭痛、嘔吐、痙攣、意識障害、片麻痺、半盲など。脳卒中様症状を繰り返し、次第に荒廃していく疾患
  • 病因:mt DNAのtRNA Leuコード領域の点変異がほとんど。遺伝性。
  • 症状:ミオクローヌスてんかん。小脳症状。
  • 症状:知的退行
  • 病因:mt DNAのtRNA Lysコード領域の点変異がほとんど。遺伝性


ミトコンドリア脳筋症」

  [★]

mitochondrial encephalomyopathy
ミトコンドリア筋症ミトコンドリア心筋症

病因

  • ミトコンドリアDNAの変異

遺伝

病型 (IMD,YN J154)

  • 外眼筋麻痺、四肢筋力低下、感音性難聴、網膜色素変性症、心伝導障害
  • 周期性頭痛、嘔吐、けいれん発作、脳卒中様発作、感音性難聴、糖尿病
  • 3. myoclonus epilepsy associated with ragged-red fibers MERRF
  • ミオクローヌスてんかん、小脳失調

共通症状(YN.J154)

  • 四肢の筋力低下、低身長、感音性難聴、知能低下、糖尿病

国試


慢性進行性外眼筋麻痺症候群」

  [★]

chronic progressive external ophthalmoplegia, CPEO
慢性進行性外眼筋麻痺
ミトコンドリア脳筋症進行性外眼筋麻痺眼筋ミオパシー



進行性外眼筋麻痺」

  [★]

progressive external ophthalmoplegia
進行性外眼筋麻痺症候群
慢性進行性外眼筋麻痺 CPEO


chronic progressive external ophthalmoplegia」

  [★] 慢性進行性外眼筋麻痺症候群 慢性進行性外眼筋麻痺 CPEO

CP」

  [★]


PrepTutorEJDIC   license prepejdic

「=Communist Party」

CPE」

  [★] 細胞変性効果 cytopathic effect


"http://meddic.jp/CPEO" より作成


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