Fig. 2

Expression levels of sense (FMR1) and antisense (ASFMR1) transcripts, and a marker of mitochondrial dysfunction (ND1 mtDNA/total DNA) in peripheral blood of PM and GZ carriers (PM + GZ/PDS) compared with both disease control samples (NS/PDS1&2), and healthy controls (HCs). A, FMR1 5′and 3′mRNA levels in PBMCs; B, ASFMR1 mRNA levels in PBMCs; C, CYC1 mRNA levels in PBMCs; and D, mtDNA ND1 levels in whole blood. PM/FXTAS is a PM carrier of 85 CGGs affected with FXTAS; and PM/UN is a PM carrier of 170 CGGs of unknown phenotype. Both these carriers were ascertained through fragile X families and have not been included in global analyses. **P < 0.05 compared with HCs; and ##P < 0.05 compared with NS/PDS1&2.