行政院國家科學委員會專題研究計畫成果報告:肢帶型肌肉失養症DYSTROPHIN相關醣蛋白的免疫組織學研究

本計劃針對二十四名診斷為肢帶型肌 肉失養症及四名先天型肌肉失養症的患 者， 以免疫組織化學的分析( 使用 Peroxidase -AntiPeroxidase 或 Immnofluorescence)，做進一步的分類。肢 帶型的診斷包括了臨床、病理及肌縮蛋白 (dystrophin)免疫染色，肌縮蛋白缺損者及 基因找到突變者則排除之。我們先使用 α-,β-,γ-δsarcoglycan 抗體做免疫組織化學 分析，所有的個案中並無發現有缺損者。 懷疑先天性肌肉失養症我們再以merosin 抗體染色亦無發現有缺損者。我們再以 dysferlin 抗體染色則發現有五名患者有顯 著減少現象，故可診斷為LBMD2B。這些 患者的CK 值均很高(>4000U/L)，其中一 患者的姊姊以三好氏遠端肌肉病變 (Miyoshi myopathy)為表現。免疫組織化學 染色對於隱性肢帶型肌肉失養症的患者提 供了進一步的分類，而台灣之患者可能大 部分非因sarcoglycan 的缺乏所引起。持續 做更大規模的檢驗及運用基因診斷法將可 對這些患者做更進一步的診斷。To differentiate autosomal recessive limb-girdle muscular dystrophies (LGMD) and congenital muscular dystrophies (CMD) we applied schematic immunostaining on muscle biopsies of 24 LGMD patients and 4 CMD patients with antibodies against α -, β - γ and δ - sarcoglycan. Immunostaining with merosin was also applied to patients with CMD. There was no reduced immunoreactivity in all the patients. Dysferlin immunostaining showed markedly reduced staining in 5 patients, thus leading to the diagnosis of LGMD2B. All these 5 patients had very high CK level (>4000U/L) and various degree of distal weakness (besides proximal weakness). One patient’s older sister had the clinical presentation of Miyoshi myopathy. In conclusion, LGMD due to sarcoglycan deficiency was not detected in our cases but 5 patients with LGMD2B were identified