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.
Keywords: FGF-21, Mitochondrial diseases, biomarker, GDF-15, COX, diagnosis.
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