FRAGILE X SYNDROME AND CONNECTIVE TISSUE CONNECTIVE TISSUE DEFICITS IN FRAGILE X SYNDROME

Fragile X Syndrome 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. Severalproteins 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 extracellular matrix, being a potential therapeutic target for certain tetracycline antibiotics that have shown beneficial effects in FXS.Here we review connective tissue problems described in Fragile X Syndrome.

This article is protected by copyright. All rights reserved.

from Genetics via xlomafota13 on Inoreader https://ift.tt/2Pj39xi
via IFTTT