Fragile X: Leading the Way for Targeted Treatments in Autism

Wang, Lulu W.; Berry-Kravis, Elizabeth; Hagerman, Randi J.

doi:10.1016/j.nurt.2010.05.005

Cited by 176Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchGenetic Neurodegenerative Diseases

Fragile X: Leading the Way for Targeted Treatments in Autism

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Wang, Lulu W., Berry-Kravis, Elizabeth, Hagerman, Randi J.·2010·Neurotherapeutics

DOI 10.1016/j.nurt.2010.05.005PMC PMC4084556

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Abstract

Two different mutations in the FMR1 gene may lead to autism. The full mutation, with >200 CGG repeats in the 5' end of FMR1, leads to hypermethylation and transcriptional silencing of FMR1, resulting in absence or deficiency of the protein product, FMRP. Deficiency of FMRP in the brain causes fragile X syndrome (FXS). Autism occurs in approximately 30% of those with FXS, and pervasive developmental disorders-not otherwise specified occur in an additional 30%. FMRP is an RNA binding protein that modulates receptor-mediated dendritic translation; deficiency leads to dysregulation of many proteins important for synaptic plasticity. Group I metabotropic glutamate receptor (mGluR1/5) activated translation is upregulated in FXS, and new targeted treatments that act on this system include mGluR5 antagonists and GABA agonists, which may reverse the cognitive and behavioral deficits in FXS. Matrix metalloproteinase 9 (MMP-9) is one of the proteins elevated in FXS, and minocycline reduces excess MMP-9 activity in the Fmr1 knockout mouse model of FXS. Both minocycline and mGluR5 antagonists are currently being evaluated in patients with FXS through controlled treatment trials. The premutation (55-200 CGG repeats) may also contribute to the mechanism of autism in approximately 10% of males and 2-3% of females. Premutations with <150 repeats exert cellular effects through a different molecular mechanism, one that involves elevated levels of FMR1 mRNA, CGG-mediated toxicity to neurons, early cell death, and fragile X-associated tremor/ataxia syndrome. In those with large premutations (150-200), lowered levels of FMRP also occur.

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Methylphenidate may target both symptoms and core neurobiological deficits in fragile X syndrome.
“a stimulant such as methylphenidate, which is commonly used to treat the symptoms of hyperactivity and attention deficits in FXS18, may target symptoms as well as core neurobiological deficits in FXS.”
From Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome (2018) · cites this paper as [98]
Cellular evidence suggests that dopamine release is dysregulated in neuronal cultures of full-mutation neurons and is improved by adding either FMRP or methylphenidate.
“evidence at a cellular level suggests that dopamine release is dysregulated in neuronal culture in full-mutation neurons, and this is improved with the addition of either FMRP or methylphenidate to the cell culture98.”
From Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome (2018) · cites this paper as [98]
Premutation in FMR1 is associated with Fragile X-associated tremor/ataxia syndrome, has a repeat length of 50-200, and does not usually cause mental deficits, but shyness, anxiety, and premature ovarian failure have been known to occur.
“Premutation, associated with Fragile X-associated tremor/ataxia syndrome (FXTAS; Wang et al., 2010), has a repeat length of 50–200 and does not usually cause mental deficits, but shyness, anxiety, and premature ovarian failure have been known to occur.”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Wang et al., 2010
In many individuals with premutations, excess FMR1 mRNA is produced, yet below normal FMRP is synthesized, and this may contribute to approximately 10% of male and 2-3% of female ASD cases.
“In many individuals with premutations, excess FMR1 mRNA is produced, yet below normal FMRP is synthesized (Tassone et al., 2000a, 2000b) and may contribute to approximately 10% of male and 2–3% of female ASD cases (Wang et al., 2010).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Wang et al., 2010

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Irwin (2001) · doi:10.1002/1096-8628(20010115)98:2
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Miller (1999) · doi:10.1002/(sici)1096-8628(19990402)83:4

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[52]Clifford S Dissanayake C Bui QM Huggins R Taylor AK Loesch DZ Autism spectrum phenotype in males and females with fragile X full mutation and premutation J Autism Dev Disord 2007 37 738 747 17031449
[53]Harris SW Hessl D Goodlin-Jones B Autism profiles of males with fragile X syndrome American Journal of Mental Retardation 2008 113 427 438 19127654 PMC2629645
[133]Paylor R Pharmacological Modification of Behavioral Responses in the Fragile X Mouse Model 11th International Fragile X Conference July 25, 2008 St. Louis, Missouri

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Authors: Wang, L. W., Berry-Kravis, E., & Hagerman, R. J.
Affiliations: University of California Davis Medical Center (US)
UC Davis Health (US)
Corresponding author: Wang, Lulu W.
ORCID: Hagerman, Randi J.
Venue: Neurotherapeutics
Publisher: Elsevier BV
Published: 2010-07
Volume: 7
Issue: 3
Pages: 264-274
ISSN: 1878-7479 (ISSN-L)
DOI: 10.1016/j.nurt.2010.05.005
PMC: PMC4084556
OpenAlex: W1972885462
Cited by: 176
References: 155
Citations by year: 2026: 4 · 2025: 9 · 2024: 5 · 2023: 7 · 2022: 6 · 2021: 12 · 2020: 2 · 2019: 6 · 2018: 6 · 2017: 8 · 2016: 7 · 2015: 12 · 2014: 30 · 2013: 14 · 2012: 29
FWCI: 2.09
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 4789 d)
Locations: Neurotherapeutics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Centers for Disease Control and Prevention (90DD0596)
National Institute on Aging (AG032115, RL1AG032115)
National Institute of Dental and Craniofacial Research (UL1DE019583, DE019583)
National Center for Research Resources (UL1RR024146)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD036071, R01HD036071)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Keywords: fragile X syndrome, autism spectrum disorder, FMR1 gene, FMRP, CGG repeat expansion, full mutation, premutation, fragile X-associated tremor/ataxia syndrome, mGluR5 antagonist, GABA agonists, dendritic translation, metabotropic glutamate receptors, MMP-9, minocycline, synaptic plasticity, targeted therapy
MeSH terms: Animals, Autistic Disorder, Fragile X Syndrome, Humans

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Fragile X: Leading the Way for Targeted Treatments in Autism

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