Fecha de publicación: 12/04/2024 Fuente: Biomolecules - Revista científica (MDPI) Biomolecules, Vol. 14, Pages 472: Joint Hypermobility Syndrome and Membrane Proteins: A Comprehensive Review
Biomolecules doi: 10.3390/biom14040472
Authors:
Raquel Pliego-Arreaga
Juan Antonio Cervantes-Montelongo
Guillermo Antonio Silva-Martínez
Fabiola Estefanía Tristán-Flores
Miguel Angel Pantoja-Hernández
Juan Raúl Maldonado-Coronado

Ehlers–Danlos syndromes (EDSs) constitute a heterogeneous group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Asymptomatic EDSs, joint hypermobility without associated syndromes, EDSs, and hypermobility spectrum disorders are the commonest phenotypes associated with joint hypermobility. Joint hypermobility syndrome (JHS) is a connective tissue disorder characterized by extreme flexibility of the joints, along with pain and other symptoms. JHS can be a sign of a more serious underlying genetic condition, such as EDS, which affects the cartilage, bone, fat, and blood. The exact cause of JHS could be related to genetic changes in the proteins that add flexibility and strength to the joints, ligaments, and tendons, such as collagen. Membrane proteins are a class of proteins embedded in the cell membrane and play a crucial role in cell signaling, transport, and adhesion. Dysregulated membrane proteins have been implicated in a variety of diseases, including cancer, cardiovascular disease, and neurological disorders; recent studies have suggested that membrane proteins may also play a role in the pathogenesis of JHS. This article presents an exploration of the causative factors contributing to musculoskeletal pain in individuals with hypermobility, based on research findings. It aims to provide an understanding of JHS and its association with membrane proteins, addressing the clinical manifestations, pathogenesis, diagnosis, and management of JHS.