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

  title={FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.},
  author={Jenni M Lehtonen and Saara Forsstr{\"o}m and Emanuela Bottani and Carlo Viscomi and Olivier Richard Baris and Helena M Isoniemi and Krister V A H{\"o}ckerstedt and Pia {\"O}sterlund and Mikko A. Hurme and Juulia Jylh{\"a}v{\"a} and Sirpa Lepp{\"a} and Ritva A. Markkula and Tiina Heli{\"o} and Giuliana Mombelli and Johanna Uusimaa and Reijo Laaksonen and Hannu Laaksovirta and Mari P Auranen and Massimo Zeviani and Jan A M Smeitink and Rudolf Josef Wiesner and Kazuto Nakada and Pirjo Isohanni and Anu Suomalainen},
  volume={87 22},
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… CONTINUE READING
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