FGF-21 as a Potential Biomarker for Mitochondrial Diseases

doi:10.2174/0929867325666180111094336

摘要

由于临床和遗传异质性，线粒体疾病的诊断仍然具有挑战性。包括Whole-Exome-Sequencing（WES）和全基因组测序（WGS）在内的先进技术的发展带来了基因诊断方面的改进。然而，血清中可靠的生物标志物可以增强和减轻诊断，并确实减少肌肉活检的需要。几项研究表明成纤维细胞生长因子21（FGF-21）是线粒体疾病诊断的生物标志物。众所周知，线粒体疾病患者中FGF-21的表达升高是为了抵消潜在的代谢缺陷。生长和分化因子15（GDF-15）也被描述为线粒体疾病的潜在生物标志物。在本文中，文献研究使用PubMed数据库对FGF-21作为线粒体疾病生物标志物的可靠性及其与GDF-15的比较进行了研究。

关键词: FGF-21，线粒体疾病，生物标志物，GDF-15，COX，诊断。

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Current Medicinal Chemistry

Title:FGF-21 as a Potential Biomarker for Mitochondrial Diseases

Volume: 25 Issue: 18

关键词: FGF-21，线粒体疾病，生物标志物，GDF-15，COX，诊断。

摘要: The diagnosis of mitochondrial diseases is still challenging due to clinical and genetical heterogeneity. The development of advanced technologies including Whole-Exome- Sequencing (WES) and Whole-Genome-Sequencing (WGS) has led to improvements in genetic diagnosis. However, a reliable biomarker in serum could enhance and ease the diagnosis and indeed reduce the need for muscle biopsy. Several studies suggest Fibroblast growth factor 21 (FGF-21) as a biomarker for diagnosis in mitochondrial disorders. It is known, that in patients with mitochondrial disorders, the expression of FGF-21 gets elevated in an effort to counteract the underlying metabolic deficiency. The growth and differentiation factor 15 (GDF-15) has been described as a potential biomarker for mitochondrial diseases, too. In the present review, a literature research, using PubMed database about the reliability of FGF-21 as a biomarker for mitochondrial disorders and its comparison with GDF-15 has been performed.

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FGF-21 as a Potential Biomarker for Mitochondrial Diseases, Current Medicinal Chemistry 2018; 25 (18) . https://dx.doi.org/10.2174/0929867325666180111094336

DOI https://dx.doi.org/10.2174/0929867325666180111094336	Print ISSN 0929-8673
Publisher Name Bentham Science Publisher	Online ISSN 1875-533X

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