タイトル厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書

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厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書

H. Kodama et al. / Brain & Development 33 (2011) 243?251 245ACTR1ATP7A/BATOX1ATP7A/BGolgi apparatusCCSCOX17PlasmaSOD1MTATP7A/BMTCOXMitochondriaCTR1: copper transporter 1SOD: superoxide dismutaseCOX: cytochrome C oxidaseATP7A/B : copper-transporting P-type ATPaseCp: ceruloplasmin→: Cu flowBCTR1MTATOX1Golgi apparatusATP7BCCSCOX17PlasmaATP7BCpMTCpSOD1CpCpCpCpATP7BLysosome?MURR1?BilecanaliculusCOXMitochondriaCTR1: copper transporter 1SOD: superoxide dismutaseCOX: cytochrome C oxidaseATP7A/B : copper-transporting P-type ATPaseCp: ceruloplasminFig. 1. Copper metabolism in human cells (A) and hepatocytes (B).N-acetylaspartate/(creatinine + phosphocreatine) [11].Lesions of hypointensity on T1-weighted imaging andhyperintensity on T2-weighted imaging are transientlyobserved in the temporal lobes that appear similarto stroke-like lesions in mitochondrial myopathy,encephalopathy, lactate acidosis, and stroke-like episodes(MELAS), suggesting that the lesions are dueto an ischemic change [12].OHS and mild MD have rarely been reported. Thepatients with OHS or mild MD show later onset thanclassical MD, and longer survival. The neurologic diseasesin these patients are milder than classical MDand include ataxia, dysarthria, mild hypotonia and mildmental retardation [4,7]. The severity of these symptomsvaries from patient to patient. The difference may be dueto residual activity of ATP7A.19