Fragile X syndrome and connective tissue dysregulation

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

Research output: Contribution to journalArticlepeer-review

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.

Translated title of the contributionSíndrome X Frágil y alteración del tejido conectivo
Original languageEnglish (US)
Article numberNA
Pages (from-to)262-267
Number of pages6
JournalClinical Genetics
Volume95
Issue number2
DOIs
StatePublished - Feb 1 2019

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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