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.
| Original language | English |
|---|---|
| Pages (from-to) | 2070-2081 |
| Number of pages | 12 |
| Journal | Current Medicinal Chemistry |
| Volume | 25 |
| Issue number | 18 |
| DOIs | |
| State | Published - 5 Jan 2018 |
Keywords
- Biomarker
- COX
- Diagnosis
- FGF-21
- GDF-15
- Mitochondrial diseases