From the Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders (S.K., P.d.L., R.J.T.R., M.C.H.J., J.A.M.S.), and Departments of Laboratory Medicine (D.H.v.T., A.M.B., F.C.G.J.S.), Radiology and Nuclear Medicine (D.V.), Health Evidence (A.R.T.D.), and General Internal Medicine (M.C.H.J.), Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
Neurology. 2014 Jul 8;83(2):125-33. doi: 10.1212/WNL.0000000000000578. Epub 2014 Jun 6.
To determine the value of fibroblast growth factor 21 (FGF21), a recently discovered biomarker for mitochondrial disease, in predicting clinical disease severity and disease progression in adult carriers of the m.3243A>G mutation.
In the context of a national inventory, the heteroplasmy levels of the m.3243A>G mutation were measured in leukocytes and urinary epithelial cells. The Newcastle Mitochondrial Disease Adult Scale score was determined and blood was drawn for measuring FGF21 concentration. Twenty-five of the included initial patients studied were then selected randomly for a follow-up study.
This prognostic study included 99 adult carriers of the m.3243A>G mutation. Our analysis revealed a moderate, significant correlation between FGF21 concentration and disease severity (r = 0.49; p = <0.001). No significant correlations were found between disease severity and the heteroplasmy percentage determined in urinary epithelial cells or the heteroplasmy percentage determined in leukocytes. Weak but significant correlations were also found between FGF21 concentration and the severity of the myopathy (r = 0.38; p = <0.001) and between the concentration of FGF21 and the severity of the encephalopathy (r = 0.30; p = <0.001). Repeated measurements following 25 subjects for 2 years revealed no significant correlation between FGF21 concentration and disease progression.
Measuring FGF21 concentration had little added value in monitoring and predicting the disease course in this specific patient group.
确定成纤维细胞生长因子 21（FGF21）的价值，这是一种最近发现的线粒体疾病生物标志物，在预测成年 m.3243A>G 突变携带者的临床疾病严重程度和疾病进展方面。
在国家库存的背景下，测量白细胞和尿上皮细胞中 m.3243A>G 突变的异质性水平。确定纽卡斯尔线粒体疾病成人量表评分，并抽取血液测量 FGF21 浓度。然后，从纳入的 25 名初始患者中随机选择 25 名进行随访研究。
这项预后研究包括 99 名 m.3243A>G 突变的成年携带者。我们的分析显示，FGF21 浓度与疾病严重程度之间存在中度、显著相关性（r = 0.49；p <0.001）。在尿上皮细胞中确定的异质性百分比或在白细胞中确定的异质性百分比与疾病严重程度之间未发现显著相关性。还发现 FGF21 浓度与肌病严重程度（r = 0.38；p <0.001）之间以及 FGF21 浓度与脑病严重程度（r = 0.30；p <0.001）之间存在微弱但显著的相关性。对 25 名受试者进行 2 年的重复测量后，发现 FGF21 浓度与疾病进展之间无显著相关性。
在监测和预测该特定患者群体的疾病过程中，测量 FGF21 浓度的附加值很小。
