Figure 3

TEM acquisition showing mitochondria in mature RBCs of RTT patients. Upper panel: Transmission Electron Microscopy acquisitions of RTT (n = 3) and healthy (n = 3) (bottom right) patients’ RBCs. Structures Resembling Mitochondria (SRM) of different shapes were observed with a significant frequency in RTT RBCs of patients bearing the R255X MCP2 mutations (a total of 3 out of 15 subjects) (a–h). These structures were not detected in healthy patients (i). Images were acquired at different magnification ranging from 20,000× to 60,000×. Lower panel: Statistical analysis. The number of RBCs displaying at least one SRM were counted in 10 different fields. The differences were statistically significant for p < 0.0004 (Unpaired τ Student’s test).