| Literature DB >> 29332568 |
Leila Motlagh Scholle1, Diana Lehmann2, Marcus Deschauer3, Torsten Kraya1, Stephan Zierz1.
Abstract
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. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.Entities:
Keywords: COX; FGF-21; GDF-15; Mitochondrial diseases; biomarker; diagnosis.
Mesh：
Substances：
Year: 2018 PMID： 29332568 DOI： 10.2174/0929867325666180111094336
Source DB: PubMed Journal: Curr Med Chem ISSN： 0929-8673 Impact factor: 4.530