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Fragile X syndrome and connective tissue dysregulation
Author(s) -
RamírezCheyne Julián A.,
Duque Gustavo A.,
AyalaZapata Sebastián,
SaldarriagaGil Wilmar,
Hagerman Paul,
Hagerman Randi,
PayánGómez César
Publication year - 2019
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13469
Subject(s) - connective tissue , fragile x syndrome , connective tissue disorder , extracellular matrix , autism spectrum disorder , autism , phenotype , biology , neuroscience , medicine , pathology , genetics , psychiatry , gene
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.