Cited by 420Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative DiseasesNeuroscience and Neuropharmacology Research

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The Pathophysiology of Fragile X Syndrome

Penagarikano, Olga, Mulle, Jennifer G., Warren, Stephen T.·2007·Annual Review of Genomics and Human Genetics

DOI 10.1146/annurev.genom.8.080706.092249

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Abstract

Fragile X syndrome is the most common form of inherited mental retardation. The disorder is mainly caused by the expansion of the trinucleotide sequence CGG located in the 5' UTR of the FMR1 gene on the X chromosome. The abnormal expansion of this triplet leads to hypermethylation and consequent silencing of the FMR1 gene. Thus, the absence of the encoded protein (FMRP) is the basis for the phenotype. FMRP is a selective RNA-binding protein that associates with polyribosomes and acts as a negative regulator of translation. FMRP appears to play an important role in synaptic plasticity by regulating the synthesis of proteins encoded by certain mRNAs localized in the dendrite. An advancing understanding of the pathophysiology of this disorder has led to promising strategies for pharmacologic interventions.

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Authors: Penagarikano, O., Mulle, J. G., & Warren, S. T.
Affiliations: Department of Human Genetics, 2Department of Biochemistry and 3Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia 30322;, ,
Emory University (US)
ORCID: Mulle, Jennifer G.
Warren, Stephen T.
Venue: Annual Review of Genomics and Human Genetics
Publisher: Annual Reviews
Published: 2007-09-01
Volume: 8
Issue: 1
Pages: 109-129
ISSN: 1527-8204 (ISSN-L)
1545-293X
DOI: 10.1146/annurev.genom.8.080706.092249
OpenAlex: W2141296384
Cited by: 420
References: 133
Citations by year: 2026: 13 · 2025: 12 · 2024: 10 · 2023: 11 · 2022: 11 · 2021: 19 · 2020: 14 · 2019: 26 · 2018: 21 · 2017: 20 · 2016: 24 · 2015: 24 · 2014: 32 · 2013: 27 · 2012: 39
FWCI: 2.97
Type: journal article
Language: en
Open access: closed
Locations: Annual Review of Genomics and Human Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Keywords: fragile X syndrome, FMR1 gene, CGG repeat expansion, FMRP, RNA-binding proteins, translational regulation, synaptic plasticity, dendritic mRNA localization, epigenetic silencing, hypermethylation, intellectual disability, pathophysiology, pharmacological interventions
MeSH terms: Base Sequence, Fragile X Syndrome, Humans, Models, Biological, Molecular Sequence Data, Mutation, Neurons, Nucleic Acid Conformation, Trinucleotide Repeats, Inheritance Patterns, Chromosomes, Human, X, Fragile X Messenger Ribonucleoprotein 1

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The Pathophysiology of Fragile X Syndrome

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