Fragile X syndrome and connective tissue dysregulation

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an X-linked disorder in which there is a deficiency of the fragile X mental retardation 1 protein. This protein is crucial in regulating translation of mRNAs related to dendritic maturation and cognitive development. The phenotype of FXS is characterized by neurobehavioral alterations, social deficits, communication difficulties, and findings which suggest an alteration of connective tissue, especially in the ligaments and muscles, cardiovascular system and genitourinary system. Connective tissue connects and supports all other tissues of the body and is composed of cells and extracellular matrix (ECM). Several proteins have been involved in the connective tissue abnormalities associated with the FXS, such as matrix metalloproteinase 9, which plays an important role in the homeostasis of the ECM, being a potential therapeutic target for certain tetracycline antibiotics that have shown beneficial effects in FXS. Here, we review connective tissue problems described in FXS. © 2018 John Wiley and Sons A/S. Published by John Wiley and Sons Ltd

• Fecha de publicación: 2019
• Institución: Universidad del Rosario
• Repositorio: Repositorio EdocUR - U. Rosario
• Idioma: eng
• OAI Identifier: oai:repository.urosario.edu.co:10336/23681
• Acceso en línea: https://doi.org/10.1111/cge.13469; https://repository.urosario.edu.co/handle/10336/23681
• Palabra clave: Actin; Elastin; Gelatinase b; Minocycline; Fmr1 protein, human; Fragile x mental retardation protein; Scleroprotein; Cardiovascular system; Connective tissue disease; Fragile x syndrome; Human; Musculoskeletal system; Nonhuman; Priority journal; Review; Urogenital system; Animal; Antibody specificity; Connective tissue; Fragile x syndrome; Genetic association study; Genetic predisposition; Genetics; Metabolism; Organogenesis; Pathophysiology; Phenotype; Animals; Connective tissue; Extracellular matrix proteins; Fragile x mental retardation protein; Fragile x syndrome; Genetic association studies; Genetic predisposition to disease; Humans; Organ specificity; Organogenesis; Phenotype; Connective tissue; Extracellular matrix; Extracellular matrix proteins; Fragile x syndrome
• License: Abierto (Texto Completo)