Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions

Autor:	Maria Teresa Dotti, Nastasia Cardone, Ilaria Taglia, Antonio Federico, Alessandro Malandrini, Gabriele Siciliano, Patrizia Formichi, Michelangelo Mancuso, Costanza Simoncini, Annalisa Lo Gerfo, Simona Salvatore, V. Montano, Elena Cardaioli
Rok vydání:	2020
Předmět:	medicine.medical_specialty Mitochondrial Diseases FGF21 Neurology Mitochondrial translation Respiratory chain Mitochondrial DNA deletions Dermatology Biology DNA Mitochondrial Biomarkers GDF15 Mitochondrial diseases 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases Genotype medicine Humans 030212 general & internal medicine Reproducibility of Results General Medicine Molecular biology Fibroblast Growth Factors Psychiatry and Mental health Mutation Transfer RNA Neurology (clinical) 030217 neurology & neurosurgery
Zdroj:	Neurological Sciences. 41:3653-3662
ISSN:	1590-3478 1590-1874
DOI:	10.1007/s10072-020-04422-5
Popis:	Diagnosis of mitochondrial diseases (MDs) is challenging, since they are multisystemic disorders, characterized by a heterogeneous symptomatology. Recently, an increase in serum levels of fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15) has been found in the majority of patients with MDs compared with healthy controls. On the other hand, the finding of low FGF21 and GDF15 levels in some patients with MDs suggests that different types of respiratory chain defects may lead to different profiles of these two proteins. In this study, we aimed to validate the diagnostic reliability of FGF21 and GDF15 assays in MDs and to evaluate a possible correlation between serum levels of the two biomarkers with genotype of MD patients. Serum FGF21 and GDF15 levels were measured by a quantitative ELISA. Our results showed increased serum FGF21 and GDF15 levels in MD patients; however, GDF15 measurement seems to be more sensitive and specific for screening tests for MD than FGF21. Moreover, we showed a positive correlation with both FGF21 and GDF15 levels and the number of COX-negative fibers. Finally, we also demonstrated that the increase of FGF21 and GDF15 was related to MDs caused by mitochondrial translation defects, and multiple and single mtDNA deletions, but not to MDs due to mutations in the respiratory chain subunits.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b560382bd6e4b5ed66f611cc620139d4 https://doi.org/10.1007/s10072-020-04422-5 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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