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首页> 外文期刊>Expert opinion on medical diagnostics. >Fibroblast growth factor 21: A novel biomarker for human muscle-manifesting mitochondrial disorders
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Fibroblast growth factor 21: A novel biomarker for human muscle-manifesting mitochondrial disorders

机译：成纤维细胞生长因子21：人类肌肉表现线粒体疾病的新型生物标志物

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Introduction: Diagnosis of mitochondrial disorders is challenging, because of their highly variable clinical manifestations and age-of-onset and the shortage of specific diagnostic tools. Recent molecular studies have found that serum fibroblast growth factor 21 (FGF21) has potential to be a biomarker for muscle-manifesting mitochondrial disease, as well as for follow-up of disease progression and effect of intervention. Areas covered: Serum FGF21 as a biomarker is compared to conventional serum diagnostic tools for mitochondrial disorders. Expert opinion: Mitochondrial disorders are a large group of different progressive disorders, with the age-of-onset from neonatal life to late adulthood, and symptoms originating from any organ system but sharing an underlying cause of mitochondrial dysfunction. The prevalence of these disorders is about 1:2000, varying somewhat between different countries. Serum diagnostic tools include lactate, pyruvate, their ratio, creatine kinase and amino acids. However, none of these markers are both sensitive and specific. Increased levels of FGF21 cytokine were recently found in the serum of patients, who have a muscle-manifesting mitochondrial disease, thus providing a promising, novel, sensitive and specific biomarker for these disorders.
机译：简介：线粒体疾病的诊断具有挑战性，因为它们的临床表现和发病年龄差异很大，并且缺乏特定的诊断工具。最近的分子研究发现，血清成纤维细胞生长因子21（FGF21）可能是肌肉表现线粒体疾病以及疾病进展和干预效果的生物标志物。覆盖区域：将血清FGF21作为生物标志物与针对线粒体疾病的常规血清诊断工具进行了比较。专家意见：线粒体疾病是一大类不同的进行性疾病，其发病年龄从新生儿到成年后期，其症状均来自任何器官系统，但共同导致线粒体功能障碍。这些疾病的患病率约为1：2000，在不同国家之间有所不同。血清诊断工具包括乳酸，丙酮酸，它们的比例，肌酸激酶和氨基酸。但是，这些标记都没有灵敏和特异的。最近在患有肌肉表现型线粒体疾病的患者血清中发现了FGF21细胞因子水平的升高，因此为这些疾病提供了一种有希望的，新颖的，敏感的和特异性的生物标志物。

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