FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.

ABSTRACT:

Objective

To validate new mitochondrial myopathy serum biomarkers for diagnostic use.

Methods

We analyzed serum FGF21 (S-FGF21) and GDF15 from patients with (1) mitochondrial diseases and (2) nonmitochondrial disorders partially overlapping with mitochondrial disorder phenotypes. We (3) did a meta-analysis of S-FGF21 in mitochondrial disease and (4) analyzed S-Fgf21 and skeletal muscle Fgf21 expression in 6 mouse models with different muscle-manifesting mitochondrial dysfunctions.

Results

We report that S-FGF21 consistently increases in primary mitochondrial myopathy, especially in patients with mitochondrial translation defects or mitochondrial DNA (mtDNA) deletions (675 and 347 pg/mL, respectively; controls: 66 pg/mL, p < 0.0001 for both). This is corroborated in mi

SUBMITTER: Lehtonen JM 

PROVIDER: S-EPMC5270510 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature