Fragile X syndrome and connective tissue dysregulation

Julián A. Ramírez-Cheyne, Gustavo A. Duque, Sebastián Ayala-Zapata, Wilmar Saldarriaga-Gil, Paul J Hagerman, Randi J Hagerman, César Payán-Gómez

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

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.

Original languageEnglish (US)
JournalClinical Genetics
DOIs
StateAccepted/In press - Jan 1 2018

Keywords

  • connective tissue
  • extracellular matrix
  • extracellular matrix proteins
  • fragile X syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Ramírez-Cheyne, J. A., Duque, G. A., Ayala-Zapata, S., Saldarriaga-Gil, W., Hagerman, P. J., Hagerman, R. J., & Payán-Gómez, C. (Accepted/In press). Fragile X syndrome and connective tissue dysregulation. Clinical Genetics. https://doi.org/10.1111/cge.13469