Article
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation.
Molecular genetics and metabolism - 1 Jan 2022
Evangelisti Stefania, Gramegna Laura Ludovica, La Morgia Chiara, Di Vito Lidia, Maresca Alessandra, Talozzi Lia, Bianchini Claudio, Mitolo Micaela, Manners David Neil, Caporali Leonardo, Valentino Maria Lucia, Liguori Rocco, Carelli Valerio, Lodi Raffaele, Testa Claudia, Tonon Caterina
Abstract excerpt
INTRODUCTION: The mitochondrial DNA (mtDNA) m.3243A > G mutation in the MT-TL1 gene results in a multi-systemic disease, that is commonly associated with neurodegenerative changes in the brain. METHODS: Seventeen patients harboring the m3243A > G mutation were enrolled (age 43.1 ± 11.4 years, 10 M/7F). A panel of plasma biomarkers including lactate acid, alanine, L-arginine, fibroblast growth factor 21 (FGF-21),...
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