CEDOC, NOVA Medical School, Universidade NOVA de Lisboa, Lisbon, Portugal; Institute of Hygiene and Tropical Medicine, Universidade NOVA de Lisboa and Global Health and Tropical Diseases Research Centre Lisbon, Portugal.
CEDOC, NOVA Medical School, Universidade NOVA de Lisboa, Lisbon, Portugal; Centro Hospitalar de Lisboa Ocidental, Hospital de Egas Moniz, Lisboa, Rheumatology Department, Portugal.
Acta Reumatol Port. 2021 Oct-Dec;46(4):342-349.
Axial Spondyloarthritis (axSpA) is a chronic, inflammatory rheumatic disease that affects the axial skeleton, causing pain, stiffness, and fatigue. Genetics and environmental factors such as microbiota and microtrauma are known causes of disease susceptibility and progression. Murine models of axSpA found a decisive role for biomechanical stress as an inducer of enthesitis and new bone formation. Here, we hypothesize that muscle properties in axSpA patients are compromised and influenced by genetic background.
To improve our current knowledge of axSpA physiopathology, we aim to characterize axial and peripheral muscle properties and identify genetic and protein biomarker that might explain such properties.
A cross-sectional study will be conducted on 48 participants aged 18-50 years old, involving patients with axSpA (according to ASAS classification criteria, symptoms duration < 10 years) and healthy controls matched by gender, age, and levels of physical activity. We will collect epidemiological and clinical data and perform a detailed, whole body and segmental, myofascial characterization (focusing on multifidus, brachioradialis and the gastrocnemius lateralis) concerning: a) Physical Properties (stiffness, tone and elasticity), assessed by MyotonPRO®; b) Strength, by a dynamometer; c) Mass, by bioimpedance; d) Performance through gait speed and 60-second sit-to-stand test; e) Histological and cellular/ molecular characterization through ultrasound-guided biopsies of multifidus muscle; f) Magnetic Resonance Imaging (MRI) characterization of paravertebral muscles. Furthermore, we will perform an integrated transcriptomics and proteomics analysis of peripheral blood samples.
The innovative and multidisciplinary approaches of this project rely on the elucidation of myofascial physical properties in axSpA and also on the establishment of a biological signature that relates to specific muscle properties. This hitherto unstudied link between gene/protein signatures and muscle properties may enhance our understanding of axSpA physiopathology and reveal new and useful diagnostic and therapeutic targets.
中轴型脊柱关节炎（axSpA）是一种慢性炎症性风湿病，影响中轴骨骼，引起疼痛、僵硬和疲劳。遗传和环境因素，如微生物群和微创伤，是疾病易感性和进展的已知原因。axSpA 的小鼠模型发现，生物力学应激是引发附着点炎和新骨形成的决定性因素。在这里，我们假设 axSpA 患者的肌肉特性受到遗传背景的影响。
为了提高我们对 axSpA 病理生理学的认识，我们旨在描述轴性和外周性肌肉特性，并确定可能解释这些特性的遗传和蛋白质生物标志物。
将对 48 名年龄在 18-50 岁之间的参与者进行横断面研究，包括 axSpA 患者（根据 ASAS 分类标准，症状持续时间<10 年）和性别、年龄和身体活动水平相匹配的健康对照组。我们将收集流行病学和临床数据，并对整个身体和节段性肌筋膜进行详细的特征描述（重点关注多裂肌、肱桡肌和腓肠肌外侧），包括：a）物理特性（僵硬、张力和弹性），使用 MyotonPRO®进行评估；b）力量，使用测力计；c）质量，使用生物阻抗法；d）通过步态速度和 60 秒坐立测试评估运动表现；e）通过多裂肌超声引导活检进行组织学和细胞/分子特征描述；f）脊柱旁肌肉的磁共振成像（MRI）特征。此外，我们将对外周血样本进行综合转录组学和蛋白质组学分析。
该项目的创新和多学科方法依赖于阐明 axSpA 中的肌筋膜物理特性，以及建立与特定肌肉特性相关的生物学特征。这种以前未研究过的基因/蛋白质特征与肌肉特性之间的联系可能会增强我们对 axSpA 病理生理学的理解，并揭示新的、有用的诊断和治疗靶点。
