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Article

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

Neurology - 29 Nov 2016

Lehtonen Jenni M, Forsström Saara, Bottani Emanuela, Viscomi Carlo, Baris Olivier R, Isoniemi Helena, Höckerstedt Krister, Österlund Pia, Hurme Mikko, Jylhävä Juulia, Leppä Sirpa, Markkula Ritva, Heliö Tiina, Mombelli Giuliana, Uusimaa Johanna, Laaksonen Reijo, Laaksovirta Hannu, Auranen Mari, Zeviani Massimo, Smeitink Jan, Wiesner Rudolf J, Nakada Kazuto, Isohanni Pirjo, Suomalainen Anu

Abstract excerpt

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...

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Identifiers

PMID: 27794108
DOI: 10.1212/WNL.0000000000003374
PMCID: PMC5270510

Genes

FGF21
GDF15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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