Fragile X syndrome and connective tissue dysregulation

Título traducido de la contribución: Síndrome X Frágil y alteración del tejido conectivo

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

Resultado de la investigación: Contribución a RevistaArtículo

Resumen

El síndrome fragil X (FXS) es la causa más común de discapacidades intelectuales hereditarias y trastornos del espectro autista, es una enfermedad ligada al X en el que existe una deficiencia de la proteína frágil X del retraso mental 1. Esta proteína es crucial para regular la traducción de los ARNm relacionados con la maduración dendrítica y el desarrollo cognitivo. El fenotipo de FXS se caracteriza por alteraciones neuroconductuales, déficits sociales, dificultades de comunicación y hallazgos que sugieren una alteración del tejido conectivo, especialmente en los ligamentos y los músculos, el sistema cardiovascular y el sistema genitourinario. El tejido conectivo se conecta y es compatible con todos los demás tejidos del cuerpo y está compuesto de células y matriz extracelular (ECM). Varias proteínas han estado involucradas en las anomalías del tejido conectivo asociadas con la FXS, como la metaloproteinasa de matriz 9, que desempeña un papel importante en la homeostasis de la ECM, siendo un objetivo terapéutico potencial para ciertos antibióticos de tetraciclina que han demostrado efectos beneficiosos en la FXS. Aquí, revisamos los problemas de tejido conectivo descritos en FXS.
Idioma originalEnglish (US)
Número de artículoNA
Páginas (desde-hasta)262-267
Número de páginas6
PublicaciónClinical Genetics
Volumen95
N.º2
DOI
EstadoPublished - feb 1 2019

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Citar esto

Ramírez-Cheyne, J. A., Duque, G. A., Ayala-Zapata, S., Saldarriaga-Gil, W., Hagerman, P., Hagerman, R., & Payán-Gómez, C. (2019). Fragile X syndrome and connective tissue dysregulation. Clinical Genetics, 95(2), 262-267. [NA]. https://doi.org/10.1111/cge.13469
Ramírez-Cheyne, Julián A. ; Duque, Gustavo A. ; Ayala-Zapata, Sebastián ; Saldarriaga-Gil, Wilmar ; Hagerman, Paul ; Hagerman, Randi ; Payán-Gómez, César. / Fragile X syndrome and connective tissue dysregulation. En: Clinical Genetics. 2019 ; Vol. 95, N.º 2. pp. 262-267.
@article{3fdb68088a2d46ad976c1162ac29358d,
title = "Fragile X syndrome and connective tissue dysregulation",
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.",
author = "Ram{\'i}rez-Cheyne, {Juli{\'a}n A.} and Duque, {Gustavo A.} and Sebasti{\'a}n Ayala-Zapata and Wilmar Saldarriaga-Gil and Paul Hagerman and Randi Hagerman and C{\'e}sar Pay{\'a}n-G{\'o}mez",
year = "2019",
month = "2",
day = "1",
doi = "10.1111/cge.13469",
language = "English (US)",
volume = "95",
pages = "262--267",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "2",

}

Ramírez-Cheyne, JA, Duque, GA, Ayala-Zapata, S, Saldarriaga-Gil, W, Hagerman, P, Hagerman, R & Payán-Gómez, C 2019, 'Fragile X syndrome and connective tissue dysregulation', Clinical Genetics, vol. 95, n.º 2, NA, pp. 262-267. https://doi.org/10.1111/cge.13469

Fragile X syndrome and connective tissue dysregulation. / Ramírez-Cheyne, Julián A.; Duque, Gustavo A.; Ayala-Zapata, Sebastián; Saldarriaga-Gil, Wilmar; Hagerman, Paul; Hagerman, Randi; Payán-Gómez, César.

En: Clinical Genetics, Vol. 95, N.º 2, NA, 01.02.2019, p. 262-267.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - Fragile X syndrome and connective tissue dysregulation

AU - Ramírez-Cheyne, Julián A.

AU - Duque, Gustavo A.

AU - Ayala-Zapata, Sebastián

AU - Saldarriaga-Gil, Wilmar

AU - Hagerman, Paul

AU - Hagerman, Randi

AU - Payán-Gómez, César

PY - 2019/2/1

Y1 - 2019/2/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85057324778&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85057324778&partnerID=8YFLogxK

U2 - 10.1111/cge.13469

DO - 10.1111/cge.13469

M3 - Article

C2 - 30414172

AN - SCOPUS:85057324778

VL - 95

SP - 262

EP - 267

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 2

M1 - NA

ER -

Ramírez-Cheyne JA, Duque GA, Ayala-Zapata S, Saldarriaga-Gil W, Hagerman P, Hagerman R y otros. Fragile X syndrome and connective tissue dysregulation. Clinical Genetics. 2019 feb 1;95(2):262-267. NA. https://doi.org/10.1111/cge.13469