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. Author manuscript; available in PMC: 2022 Jun 13.
Published in final edited form as: Nat Biomed Eng. 2021 May 24;5(12):1457–1471. doi: 10.1038/s41551-021-00716-x

Fig. 7. Human jumping performance influenced by PIEZO1GOF E756 mutation with no effect on Achilles tendon morphology.

Fig. 7

a, Genotyping identified n=22 E756del carriers and n=43 non-carriers in the 65 African American participants with (b) no differences in age, height and weight between the two groups, Mann-Whitney test. c, Ultrasound imaging was used to assess the morphology (length and cross-sectional area) of the Achilles tendon. d, The cross-sectional area, length to the gastrocnemius muscle and to the soleus muscle of the Achilles tendon were unaffected by the E756del mutation. e, Schematic of single leg CMJ and single leg DCMJ used to assess the jumping performance. CMJ and DCMJ differ solely by the initial drop (from 20 cm) in DCMJ, which leads to greater Achilles tendon loading. For each leg and jump the average of 3 trials was used for analysis. f, The average jumping heights between non-carriers and E756del carries were similar (CMJ: 13.1±5.4 vs 11.6±4.4 cm (P = 0.25) and DCMJ: 12.8±5.7 vs 12.4±4.6 cm (P = 0.77), mean±SD represented on the sides). However, intra-subject analysis within non-carriers revealed a similar performance in both jumps (P = 0.28), whereas, within E756del carriers the performance was significantly better in DCMJ compared to CMJ (P = 0.02, paired analysis). Performances corresponding to the same leg are connected with a line. g, Normalization of the DCMJ-height to the CMJ-height, to isolate the effect of greater tendon loading, shows a significant increase in normalized jumping height in E756del carriers compared to non-carriers. h, Conversion of jump height difference (between DCMJ and CMJ) into potential energy demonstrates that E756del carriers more effectively transformed the drop energy into jump height. Statistics was performed with linear mixed effects models unless indicated otherwise (subject ID as random effect and leg as fixed effect), both legs of n=22 E756del carriers and n=43 non-carriers were analysed. Replicates are biological. Unless indicated otherwise, data are means±SEM.