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首页> 外文期刊>Amyloid: the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis >Gene expression profile in hereditary transthyretin amyloidosis: Differences in targeted and source organs
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Gene expression profile in hereditary transthyretin amyloidosis: Differences in targeted and source organs

机译：遗传性运甲状腺素蛋白淀粉样变性的基因表达谱：靶器官和源器官的差异

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Introduction: Hereditary transthyretin amyloidosis (ATTR) is a genetic disease caused by a point mutation in the TTR gene that causes the liver to produce an unstable TTR protein. The most effective treatment has been liver transplantation in order to replace the variant TTR producing liver with one that produces only wild-type TTR. ATTR amyloidosis patients' livers are reused for liver sick patients, i.e. the Domino procedure. However, recent findings have demonstrated that ATTR amyloidosis can develop in the recipients within 7-8 years. The aim of this study was to elucidate how the genetic profile of the liver is affected by the disease, and how amyloid deposits affect target tissue. Methods: Gene expression analysis was used to unravel the genetic profiles of Swedish ATTR V30M patients and controls. Biopsies from adipose tissue and liver were examined. Results and Conclusions: ATTR amyloid patients' gene expression profile of the main source organ, the liver, differed markedly from that of the controls, whereas the target organs' gene expression profiles were not markedly altered in the ATTR amyloid patients compared to those of the controls. An impaired ER/protein folding pathway might suggest ER overload due to mutated TTR protein.
机译：简介：遗传性甲状腺素转运蛋白淀粉样变性病（ATTR）是一种遗传疾病，由TTR基因的点突变引起，该突变导致肝脏产生不稳定的TTR蛋白。最有效的治疗方法是肝脏移植，以用仅产生野生型TTR的肝脏替代产生TTR的变异肝。将ATTR淀粉样变性病患者的肝脏重新用于肝病患者，即Domino手术。但是，最近的研究结果表明，ATTR淀粉样变性可以在7-8年内在受体中发展。这项研究的目的是阐明该疾病如何影响肝脏的遗传特征，以及淀粉样蛋白沉积如何影响靶组织。方法：使用基因表达分析来揭示瑞典ATTR V30M患者和对照的遗传特征。检查了来自脂肪组织和肝脏的活检。结果与结论：ATTR淀粉样蛋白患者的主要来源器官（肝脏）的基因表达谱与对照相比有显着差异，而ATTR淀粉样蛋白患者的靶器官的基因表达谱与肝癌相比没有明显改变。控件。 ER /蛋白折叠途径受损可能表明由于TTR蛋白突变导致ER超负荷。

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