PIEZO1 gain-of-function gene variant is associated with elevated tendon stiffness in humans.

Prolonged periods of increased physical demands can elicit anabolic tendon adaptations that increase stiffness and mechanical resilience or conversely can lead to pathological processes that deteriorate tendon structural quality with ensuing pain and potential rupture. Although the mechanisms by which tendon mechanical loads regulate tissue adaptation are largely unknown, the ion channel PIEZO1 has been implicated in tendon mechanotransduction, with human carriers of the PIEZO1 gain-of-function variant E756del displaying improved dynamic vertical jump performance compared with noncarriers. Here, we sought to examine whether increased tendon stiffness in humans could explain this increased performance. We assessed tendon morphological and mechanical properties with ultrasound-based techniques in 77 participants of Middle- and West-African descent, and we measured their vertical jumping performance to assess potential functional consequences in the context of high tendon strain-rate loading. Carrying the E756del gene variant (n = 30) was associated with 46.3 ± 68.3% (P = 0.002) and 45.6 ± 69.2% (P < 0.001) higher patellar tendon stiffness and Young's modulus compared with noncarrying controls, respectively. Although these tissue level measures strongly corroborate the initial postulate that PIEZO1 plays an integral part in regulating tendon material properties and stiffness in humans, we found no detectable correlation between tendon stiffness and jumping performance in the tested population that comprised individuals of highly diverse physical fitness level, dexterity, and jumping ability.NEW & NOTEWORTHY The E756del gene variant causes overactivity of the mechanosensitive membrane channel PIEZO1 and is suspected to upregulate tendon collagen cross linking. In human carriers of E756del, we found increased patellar tendon stiffness but similar tendon lengths and cross-sectional areas, directly supporting the premise that PIEZO1 regulates human tendon stiffness at the level of tissue material properties.

Patellar Tendon Shear Wave Velocity Is Higher and has Different Regional Patterns in Elite Competitive Alpine Skiers than in Healthy Controls.

Competitive alpine skiers are exposed to enormous forces acting on their bodies-particularly on the knee joint and hence the patellar tendon - during both the off-season preparation and in-season competition phases. However, factors influencing patellar tendon adaptation and regional pattern differences between alpine skiers and healthy controls are not yet fully understood, but are essential for deriving effective screening approaches and preventative countermeasures. Thirty elite competitive alpine skiers, all members of the Swiss Alpine Ski Team, and 38 healthy age-matched controls were recruited. A set of two-dimensional shear wave elastography measurements of the PT was acquired and projected into three-dimensional space yielding a volumetric representation of the shear wave velocity profile of the patellar tendon. Multivariate linear models served to quantify differences between the two cohorts and effects of other confounding variables with respect to regional shear wave velocity. A significant (p < 0.001) intergroup difference was found between skiers (mean ± SD = 10.4 ± 1.32 m/s) and controls (mean ± SD = 8.9 ± 1.59 m/s). A significant sex difference was found within skiers (p = 0.024), but no such difference was found in the control group (p = 0.842). Regional SWV pattern alterations between skiers and controls were found for the distal region when compared to the mid-portion (p = 0.023). Competitive alpine skiers exhibit higher SWV in all PT regions than healthy controls, potentially caused by long-term adaptations to heavy tendon loading. The presence of sex-specific differences in PT SWV in skiers but not in controls indicates that sex effects have load-dependent dimensions. Alterations in regional SWV patterns between skiers and controls suggest that patellar tendon adaptation is region specific. In addition to the implementation of 3D SWE, deeper insights into long-term tendon adaptation and normative values for the purpose of preventative screening are provided.