University College London, Division of Medicine, London WC1E 6JF, UK.
J Pathol. 2011 Sep;225(1):1-3. doi: 10.1002/path.2950.
In this issue of the Journal of Pathology, Bardella et al report a method for identifying tumours that lack fumarate hydratase. The approach they use is immunodetection of proteins that have been modified by a non-enzymatic reaction of thiol groups in proteins with fumarate, which is termed succination. Validation included the use of mice with targeted inactivation of fumarate hydratase in the kidney, extensive studies of normal human tissues and examination of over 1000 specimens from human cancers not associated with FH mutations. Detection of protein succination is likely to provide a sensitive and specific method for pathologists to identify the small proportion of papillary renal cell carcinomas that are associated with germline mutations in the FH gene.
在本期《病理学杂志》中，Bardella 等人报道了一种鉴定缺乏富马酸水合酶的肿瘤的方法。他们使用的方法是免疫检测蛋白质，这些蛋白质的巯基与富马酸发生非酶反应，从而被修饰，这种反应被称为琥珀酰化。验证包括使用肾脏中富马酸水合酶靶向失活的小鼠、对正常人类组织进行广泛研究以及检查 1000 多个与 FH 突变无关的人类癌症标本。检测蛋白质琥珀酰化可能为病理学家提供一种敏感和特异的方法，以鉴定与 FH 基因种系突变相关的少数乳头状肾细胞癌。
