Figure 4. Expression level of SYT-1 and -2 in patient 1.
(A) Immunostaining study of SYT1 and SYT2 in green together with AChR in red to visualize the synaptic area. All NMJs express SYT2 in the control (a–c), whereas SYT2 staining intensity is decreased in the patient's NMJs (d–i). A large majority of NMJs expressing a low immunostaining intensity of SYT1 were detected in the control (j–l) while an increase in staining intensity and number of NMJs expressing SYT1 was observed in patient's samples (m–r). Scale bar: 10 μm. (B) Histograms of mean intensity and percentage of positive NMJs for SYT1 and SYT2 staining on confocal z-stack projections of all patient's NMJs analyzed, including negative immunostaining, compared with the control. Number of NMJs analyzed: 50 for the patient and 30 for the control. ***p < 0.0001. All error bars are SEM. AChR = acetylcholine receptor; NMJ = neuromuscular junction; SYT = synaptotagmin.