Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056-Reference-Cited by-同舟云学术

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

Published:2011-01-05 Issue:64 Volume:3 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Jacquemont Sébastien¹,Curie Aurore²,des Portes Vincent²,Torrioli Maria Giulia³,Berry-Kravis Elizabeth⁴,Hagerman Randi J.⁵,Ramos Feliciano J.⁶,Cornish Kim⁷,He Yunsheng⁸,Paulding Charles⁸,Neri Giovanni⁹,Chen Fei¹¹⁰,Hadjikhani Nouchine¹⁰¹¹,Martinet Danielle¹,Meyer Joanne⁸,Beckmann Jacques S.¹,Delange Karine²,Brun Amandine²,Bussy Gerald²,Gasparini Fabrizio¹²,Hilse Talita¹³,Floesser Annette¹³,Branson Janice¹²,Bilbe Graeme¹²,Johns Donald¹⁴,Gomez-Mancilla Baltazar¹⁴

Affiliation:

1. Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, CH-1011 Lausanne, Switzerland.

2. National Reference Center for Fragile X and Other XLMR, Hospices Civils de Lyon, Université de Lyon and CNRS UMR 5230 (L2C2), F-69675 Bron, France.

3. Università Cattolica del Sacro Cuore, Cattedra di Neuropsichiatria Infantile, 00168 Rome, Italy.

4. Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, IL 60612, USA.

5. Department of Pediatrics and Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA.

6. Department of Pediatrics, University of Zaragoza Medical School, 50009 Zaragoza, Spain.

7. Centre for Developmental Psychiatry and Psychology, School of Psychology and Psychiatry, Monash University, Melbourne, Victoria 3800, Australia.

8. Biomarker Development, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA.

9. Università Cattolica del Sacro Cuore, Istituto di Genetica Medica, 00191 Rome, Italy.

10. Brain Mind Institute, École Polytechnique Fédérale de Lausanne, CH-1015 Lausanne, Switzerland.

11. Martinos Center for Biomedical Imaging, Harvard Medical School, Boston, MA 02129, USA.

12. Neuroscience Discovery, Novartis Pharma AG, CH-4056 Basel, Switzerland.

13. Neuroscience Clinical Sciences and Innovation, Novartis Institutes for Biomedical Research, Novartis Pharma AG, CH-4056 Basel, Switzerland.

14. Neuroscience Translational Medicine, Novartis Institutes for Biomedical Research, Novartis Pharma AG, CH-4056 Basel, Switzerland.

Abstract

An antagonist for the metabotropic glutamate receptor may improve symptoms in patients with fragile X syndrome whose FMR1 promoters are fully methylated.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference27 articles.

1. Advances in the Treatment of Fragile X Syndrome

2. Absence of expression of the FMR-1 gene in fragile X syndrome

3. Fragile X mental retardation protein replacement restores hippocampal synaptic function in a mouse model of fragile X syndrome

4. Fragile X syndrome and deletions in FMR1: New case and review of the literature

5. DNA methylation represses FMR-1 transcription in fragile X syndrome

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