Article
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.
Human genetics - 1 Feb 2020
Nobile Veronica, Palumbo Federica, Lanni Stella, Ghisio Valentina, Vitali Alberto, Castagnola Massimo, Marzano Valeria, Maulucci Giuseppe, De Angelis Claudio, De Spirito Marco, Pacini Laura, D'Andrea Laura, Ragno Rino, Stazi Giulia, Valente Sergio, Mai Antonello, Chiurazzi Pietro, Genuardi Maurizio, Neri Giovanni, Tabolacci Elisabetta
Abstract excerpt
Fragile X-related disorders are due to a dynamic mutation of the CGG repeat at the 5' UTR of the FMR1 gene, coding for the RNA-binding protein FMRP. As the CGG sequence expands from premutation (PM, 56-200 CGGs) to full mutation (> 200 CGGs), FMRP synthesis decreases until it is practically abolished in fragile X syndrome (FXS) patients, mainly due to FMR1 methylation. Cells from rare individuals with no...
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