Population screening for Wilson's disease
Population screening for Wilson's disease
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DOI：
10.1111/nyas.12423
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发表时间：
2014-01-01
期刊：
影响因子：
--
通讯作者：
Hahn, Si Houn
中科院分区：
文献类型：
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作者：
Hahn, Si Houn
威尔逊氏病是一种铜转运常染色体隐性遗传病，由编码atp酶ATP7B的基因突变引起。威尔逊氏病的早期发现是至关重要的，因为有有效的药物治疗，如螯合剂和锌盐，可以预防终身神经残疾和/或肝硬化。不幸的是，尽管有有效的治疗方法，但大多数患者是在出现严重并发症（如脑损伤或肝硬化）后才引起我们的注意的。诊断通常是通过肝组织中铜含量的测定，然后通过ATP7B基因的基因检测来确认。目前，没有有效的生物标志物或方法适用于新生儿筛查威尔逊氏病。铜蓝蛋白已用于儿科和新生儿筛查，但结果有限。最近，液相色谱-多重反应监测-质谱（LC-MRM-MS）作为一种强大的技术出现，可以对低丰度的特征蛋白型肽进行多重定量分析。该技术的应用可能有助于促进威尔森氏病蛋白表达、生物标志物研究、诊断和筛选的研究。
Wilson's disease is an autosomal recessive disorder of copper transport caused by mutations in the gene encoding an ATPase, ATP7B. Early detection of Wilson's disease is critical because effective medical treatments such as chelating agents and zinc salts are available, which can prevent lifelong neurological disabilities and/or cirrhosis. It is unfortunate that most patients are brought to our attention after they have developed serious complications such as brain damage or cirrhosis, despite the availability of effective treatments. The diagnosis is usually made through copper measurement in the liver tissue, followed by confirmation with genetic testing of the ATP7B gene. Currently, there are no effective biomarkers or methods suitable for newborn screening for Wilson's disease. Ceruloplasmin has been tested for pediatric and newborn screening with limited outcome. Recently, liquid chromatography-multiple reaction monitoring-mass spectrometry (LC-MRM-MS) has emerged as a robust technology that may enable multiplex quantification of signature proteotypic peptides with low abundance. The application of this technology may help facilitate the research on Wilson's disease for protein expression, biomarker study, diagnosis, and, hopefully, screening.