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Sports related orthopedic conditions: clinical, genetic and molecular aspects


The musculoskeletal conditions are the most common cause of prolonged chronic pain and physical incapacity, and they affect all ages and genders and it is found in all socio-demographic classes. In the last decade, it had been reported that regular practice of sports and physical activity has a positive effect on welfare and health. However, the physical or sport practices are also associated with the risk of lesions and related sequelae. Although both diseases present a genetic component, the etiology of these diseases are still unknown. Thus, the present study aim to identify intrinsic factors - gender, age, ancestrality, generalized articular hypermobility, anatomic factors, histological factors, genetic variations, molecular alterations, etc. - associated with the risk of anterior cruciate ligament injury, menisci injury, recurrent patellar luxation and anterior traumatic shoulder instability. Multivariate analyses will be performed to create risk prediction models. These analyses will help to understand the relationship of dependence and/or interdepencence among a group of variables and to establish new strategies of prevention of the four studied conditions. Polymorphism of genes involved, mainly, in the extracellular matrix structure and remodeling will be analyzed to identify genetic variants associated with the risk of these lesions. The expression of genes and proteins related to these processes will be evaluated in tissue samples with and without lesion. To elucidate the transcriptional mechanism control, the expression of miR-29b microRNA will be determined in these tissues. To our knowledge, few studies in literature evaluated polymorphism or gene and protein expression in anterior cruciate ligament injury and shoulder instability. Moreover, the proposed analyses are original in menisci injury or patellar luxation. The study of microRNA expression in these conditions is also innovative in the literature. The investigation of genetic, transcriptional and translational mechanisms involved mainly in the extracellular matrix structure and remodeling may help the improvement of prognosis determination and of patient management, as well as the identification of possible targets for new drugs for rotator cuff tear and adhesive capsulitis treatment. This study will generate new biological information that will allow the better understanding of etiopathology and physiology of both conditions with possible medicine application. (AU)

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