【摘要】：目的:探討抗肌萎縮蛋白相關(guān)蛋白(Utrophin)在Duchenne型肌營(yíng)養(yǎng)不良癥(DMD)與Becker型肌營(yíng)養(yǎng)不良癥(BMD)患兒腓腸肌組織中的表達(dá)水平及臨床意義。方法:采用實(shí)時(shí)熒光定量PCR方法檢測(cè)肌營(yíng)養(yǎng)不良癥組(n=31)[包括DMD組(n=24)與BMD組(n=7),DMD組又分為DMD1組(n=6)、DMD2組(n=12)、DMD3組(n=6)]與對(duì)照組(n=21)腓腸肌組織中抗肌萎縮蛋白相關(guān)蛋白(Utrophin)及抗肌萎縮蛋白(Dystrophin)mRNA的表達(dá)水平,分析肌營(yíng)養(yǎng)不良癥患兒腓腸肌組織中Utrophin mRNA表達(dá)水平與Hammersmith功能運(yùn)動(dòng)評(píng)分(HFMS)之間的相關(guān)性。結(jié)果:與對(duì)照組比較,肌營(yíng)養(yǎng)不良癥組腓腸肌組織中Utrophin mRNA的表達(dá)水平升高(P=0.002)。與BMD組比較,DMD組Utrophin mRNA的表達(dá)上調(diào)(P=0.003)。與DMD1組比較,Utrophin mRNA在DMD2組與DMD3組的表達(dá)水平上調(diào),其中以DMD3組上調(diào)最為顯著(P0.05)。肌營(yíng)養(yǎng)不良癥患兒Utrophin mRNA的表達(dá)水平與HFMS呈正相關(guān)(rS=0.671,P=0.003)。結(jié)論:Utrophin在肌營(yíng)養(yǎng)不良癥患兒腓腸肌組織中表達(dá)上調(diào),Utrophin可能替代成熟骨骼肌纖維中Dystrophin的部分功能,在阻遏DMD進(jìn)展過(guò)程中起著重要作用。
[Abstract]:Objective: to investigate the expression and clinical significance of dystrophin related protein (Utrophin) (Utrophin) in gastrocnemius muscle of children with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Methods: real time fluorescence quantitative PCR was used to detect muscular dystrophy (nnm31) [including DMD group (nnt24) and BMD group (nong7), DMD group), which were divided into DMD1 group (nong6) and DMD2 group (nong12), respectively. The expression levels of dystrophin associated protein (Utrophin) and anti muscular dystrophy protein (Dystrophin) mRNA) in gastrocnemius muscle of DMD3 group and control group were analyzed. To analyze the correlation between the expression of Utrophin mRNA in gastrocnemius and Hammersmith functional motor score (HFMS) in children with muscular dystrophy. Results: compared with the control group, the expression of Utrophin mRNA in gastrocnemius was higher in muscular dystrophy (P0. 002). Compared with BMD group, Utrophin mRNA expression in DMD group was up-regulated (P0. 003). Compared with DMD1 group, the expression of, Utrophin mRNA was up-regulated in DMD2 group and DMD3 group, especially in DMD3 group (P0.05). The expression of Utrophin mRNA was positively correlated with HFMS (rS=0.671,P=0.003) in children with muscular dystrophy. Conclusion: the expression of Utrophin is up-regulated in gastrocnemius muscle of children with muscular dystrophy. Utrophin may replace the function of Dystrophin in mature skeletal muscle fibers and play an important role in inhibiting the progression of DMD.
【作者單位】： 鄭州大學(xué)第五附屬醫(yī)院神經(jīng)內(nèi)科;
【基金】：河南省科技廳重點(diǎn)資助項(xiàng)目132102310092
【分類號(hào)】：R746.2

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