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Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
Open accessAbstract
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders.FXS is caused by a triplet expansion that inhibits expression of the FMR1 gene; the gene product, FMRP, regulates mRNA metabolism in the brain and thus controls the expression of key molecules involved in receptor signaling and spine morphology.While there is no definitive cure for FXS, the understanding of FMRP function has paved the way for rational treatment designs that could potentially reverse many of the neurobiological changes observed in FXS.Additionally, behavioral, pharmacological, and cognitive interventions can raise the quality of life for both patients and their families.Conflict of interest: Randi Hagerman has received grant support from Roche, Novartis, Seaside Therapeutics, Forest, and Curemark to carry out clinical trials for fragile X and/or ASD.She has also consulted with Novartis regarding clinical trials in fragile X syndrome.Giovanni
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In the paper
“FMR1 silencing is the consequence of rather complex epigenetic modifications (13).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
What the sources say
- Not checked yetcites [13] source
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“The risk of a PM to FM transition depends on the CGG repeat size, such that the expansion risk is nearly 100% for alleles of >99 CGG repeats (11).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
What the sources say
- Not checked yetcites [11] source
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIn the paper
“A recent study (12) showed that the number of AGG interruptions present in the CGG repeats correlates inversely with the risk of expansion to a FM in the next generation.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
What the sources say
- Not checked yetcites [12] Yrigollen, 2012, Genet Med. source
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In the paper
“In FXS, cytosines located approximately up to 1-kb upstream of the CGG repeat sequences, including the FMR1 promoter, are methylated (14,15).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
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In the paper
“The presence of AGG interruptions, in addition to the CGG length, may thus better define the risk for transmission from a maternal PM to FM in the offspring.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
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“Expansion from a PM to FM can occur with alleles as small as 56 CGGs (10).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
What the sources say
- Not checked yetcites [10] source
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIn the paper
“Cytogenetic methods (6) used in the past to diagnose FXS have been replaced by molecular diagnostic of FMR1 DNA using Southern blot analysis and, more recently, PCR.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
What the sources say
- Not checked yetcites [6] source
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesThe paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“PM alleles are unstable and have a strong tendency to expand to FM alleles upon maternal transmission.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
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“Alleles possessing between 45 and 54 CGG repeats, referred to as gray-zone or intermediate alleles, are proposed to be precursors of PM alleles, potentially due to paternal and maternal meiotic instability (11).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
What the sources say
- Not checked yetcites [11] source
Strength:hedged· not yet calibratedCausal:conditional· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIn the paper
“Fragile X syndrome (FXS), an X-linked condition first described by Martin and Bell (1), is the leading cause of inherited intellectual disability (ID).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
What the sources say
- Not checked yetcites [1] source
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In the paper
“Identified in 1991 by positional cloning (8), the FMR1 gene is characterized by the presence of a polymorphic CGG triplet sequence in the 5′ UTR (8, 9).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
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In the paper
“Due to compensation by the unaffected X chromosome, only one-third of female carriers with a full mutation (FM) have ID; the majority have normal IQ, although learning difficulties and emotional problems are common (7).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
What the sources say
- Not checked yetcites [7] source
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In the paper
“Normal alleles have a number of CGG repeats, ranging from 5 to 54, with a mode of 30.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
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In the paper
“Expansion in this triplet sequence gives rise to FXS, which is the prototype of unstable triplet expansion disorders.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
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In the paper
“This boundary is missing in FM alleles, and the cytosines upstream of the CGG repeat become methylated around the thirteenth week of embryonic development (16).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
What the sources say
- Not checked yetcites [16] source
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The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Normal alleles are also methylated in the FMR1 promoter region but not in close proximity to the CGG repeat, which seems to be a “boundary” in the normal allele that prevents methylation from spreading.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
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In the paper
“Estimates report that FXS affects approximately 1 in 2,500 to 5,000 men and 1 in 4,000 to 6,000 women (2, 3).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
Strength:hedged· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
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In the paper
“FXS is caused by mutations in the FMR1 gene, which is located on the X chromosome and whose locus at Xq27.3 coincides with the folate-sensitive fragile site (4, 5).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
What the sources say
- Not checked yetcites [4] Fryns, 1984, Acta Paediatr Scand Suppl.
- Not checked yetcites [5] source
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The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Premutation (PM) alleles have a number of CGG repeats, ranging from 55 to 200.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“FMRP has been detected in P bodies and stress granules as well, where it forms translationally silent preinitiation complexes (64) (Figure 2).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Figure 1
What the sources say
- Not checked yetcites [64] source
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
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In the paper
“These epigenetic changes promote a heterochromatic configuration that excludes the binding of specific transcription factors (19), thus turning gene expression off (20).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
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In the paper
“High-throughput screenings supported by accompanying small scale studies have revealed that a wide array of neuronal mRNAs, with a large proportion encoding for presynaptic and postsynaptic proteins, is deregulated in the absence of FMRP, suggesting that concerted alteration of many proteins contributes to the FXS phenotype (62).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Figure 2
What the sources say
- Not checked yetcites [62] De Rubeis, 2012, Adv Exp Med Biol. source
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In the paper
“In addition to altered methylation status, FXS alleles show deacetylation of histones H3 and H4, reduced methylation of lysine 4 (K4), and increased methylation of lysine 9 (K9) on histone H3 (18).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
What the sources say
- Not checked yetcites [18] source
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The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Of note, some alleles remain partially or even fully unmethylated (UFM), despite containing >200 CGG repeats, but the differences in methylation status are poorly understood.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
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In the paper
“The behavior of boys with FXS typically includes attention deficit hyperactivity disorder (ADHD), with significant impulsivity and anxiety, as well as behaviors that include repetitive language, hand biting, hand stereotypies, rocking, and sometimes head banging (24,25).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Early diagnosis.
What the sources say
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“A child with FXS is often described as hyperaroused; an imbalance of the excitatory and inhibitory synaptic pathways described in the “From RNA metabolism to synaptic receptor dysfunction” section may contribute to such a clinical phenotype.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Early diagnosis.
Strength:hedged· not yet calibratedCausal:conditional· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
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In the paper
“FMRP is an RNA-binding protein, and, despite its clear shuttling from the nucleus to the cytoplasm (59,60), only the cytoplasmic function of FMRP has been well characterized.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Figure 1
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In the paper
“acetylation of histones H3 and H4 and methylation of lysine 9 on H3 of UFM alleles are more similar to those of FM alleles, while the level of methylation of lysines 4 and 27 on H3 are more similar to that of normal alleles (18,22).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
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In the paper
“PM prevalence was found to be different in various ethnic groups; it was higher in people of mixed European descent compared with that in African American and Hispanic people (for both males and females) and shows a higher incidence for PM compared with that in previous studies (34,35).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Screening for FXS alleles: early diagnosis
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In the paper
“FMRP regulates stability, subcellular transport, and translation of neuronal mRNAs encoding for proteins involved the in synaptic structure and function (58,(65)(66)(67).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Figure 1
What the sources say
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In the paper
“The fragile X mutation is the most common single genetic cause of autism, occurring in 1% to 6% of boys with ASD (7).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Clinical crosstalk between fragile X and autism
What the sources say
- Not checked yetcites [7] source
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The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Among the recurrent problems that may occur in children before 2 years of age are hypotonia, delayed motor milestones, hand flapping, poor eye contact, frequent emesis and/or otitis media, and irritability.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Early diagnosis.
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In the paper
“In addition, the majority of women with FM often do not have ID, and they are frequently diagnosed with FM following the diagnosis of FXS in their children.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Late diagnosis.
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In the paper
“As a consequence, gene transcription is inhibited, leading to the absence of its protein product FMRP (17).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Genetics of fragile X
What the sources say
- Not checked yetcites [17] source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“The results of a pilot newborn screening (NBS) study for FXS in the United States, based on the screening of 11,217 newborns, indicated that the observed prevalence of a PM allele is 1:188 in females and 1:480 in males, while the prevalence of gray-zone alleles (45-54 CGG repeats) is 1:70 in females and 1:107 in males (33).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Screening for FXS alleles: early diagnosis
What the sources say
- Not checked yetcites [33] Tassone F, et al. Newborn screening in fragile X syndrome: prevalence and allele distribution of the FMR1 gene. Paper presented at: American College of Medical Genetics Annual Clinical Genetics Meeting; July 26, 2012; Charlotte, North Carolina, USA. http://www.fragilex.org/community/international-fragile-x-conference/miami2012/agenda/ . Accessed October 19, 2012.
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In the paper
“FXTAS (Figure 1) has been reported to affect approximately 46% of male and 17% of female adult carriers (28).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Early diagnosis.
What the sources say
- Not checked yetcites [28] source
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Approximately 30% of boys with FXS meet the diagnostic criteria for autism, and these children have the lowest developmental and adaptive behavior scores of those with FXS.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Early diagnosis.
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“A late diagnosis may occur for older patients who may have undergone genetic testing prior to the 1991 discovery of the FMR1 gene (8) or for patients that carry a mild form of the disease, showing atypical symptoms as often occurs for the UFM alleles.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Late diagnosis.
What the sources say
- Not checked yetcites [8] source
Strength:hedged· not yet calibratedCausal:conditional· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“effects on other methylated genes cannot be excluded.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Epigenetic modulators.
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In the paper
“Recently, the striatal enriched protein tyrosine phosphatase (STEP) has been shown to be upregulated in FXS, and genetic reduction of STEP diminished seizures and restored selected social and nonsocial anxiety-related behaviors in the Fmr1 KO mice (94).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Amelioration of the phenotype in the mouse model: a genetic approach
What the sources say
- Not checked yetcites [94] Goebel-Goody, 2012, Genes Brain Behav. source
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In the paper
“While the action of 5-azadC appears to be specific in the context of the FMR1 gene, as shown by its lack of effect on the methylated sequence upstream of the FMR1 boundary (G.Neri, unpublished observations), effects on other methylated genes cannot be excluded.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Epigenetic modulators.
What the sources say
- Not checked yetcites G.Neri, unpublished observations
Strength:hedged· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesThe quote only partly states this claim.
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In the paper
“The molecular signaling pathways orchestrating protein synthesis, spine shape, and synaptic plasticity, such as mTOR and ERK (Figure 2), are also impaired in FXS (72,(87)(88)(89), possibly because some FMRP target mRNAs encode members of second messenger cascades converging on ERK (88,89).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Figure 2
What the sources say
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In the paper
“Moreover, it is presumed to be effective only on dividing cells, which excludes postmitotic neurons.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Epigenetic modulators.
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✗ Based: failsProbably not a substantial claim. The paper may give no reason why it holds. It may state two separate claims as one.
- The authors state this as an assumption: 5-aza-deoxycytidine is effective only on dividing cells, so it would not act on postmitotic neurons.
In the paper
“A significant amelioration of the hyperactivity and adaptive behavior of drug-treated boys (compared with those treated with placebo) was observed; however, the methylation state of FMR1 did not change, and the expression of the gene did not increase (100).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Epigenetic modulators.
What the sources say
- Not checked yetcites [100] Torrioli, 2008, Am J Med Genet A. source
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The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“This receptor unbalance results in enhanced mGluR-long-term depression (mGluR-LTD), the most commonly studied forms of hippocampal synaptic plasticity.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Figure 2
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In the paper
“Expression of a dominant-negative mutant of PAK in the forebrain of Fmr1 KO mice led to an improvement of several behavioral abnormalities, such as impaired locomotor activity, stereotypical anxiety, and trace fear conditioning, suggesting that the PAK signaling pathway could also represent a bona fide site for therapeutic intervention (93).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Amelioration of the phenotype in the mouse model: a genetic approach
What the sources say
- Not checked yetcites [93] source
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In the paper
“Reactivation was accompanied not only by DNA demethylation but also by changes in the epigenetic code of histones H3 and H4 (97).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Epigenetic modulators.
What the sources say
- Not checked yetcites [97] source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“Upon receptor activation, the FMRPmediated translational block is released, possibly due to changes (86) in its phosphorylation status, and protein synthesis can ensue.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Figure 2
What the sources say
- Not checked yetcites [86] source
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In the paper
“Because STEP acts on at least three molecules (ERK1/2, NMDA, and AMPA) affected in FXS, strategies to inhibit STEP activity may be considered for treating patients with FXS.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Amelioration of the phenotype in the mouse model: a genetic approach
What the sources say
- Not checked yetcites [94] Goebel-Goody, 2012, Genes Brain Behav. source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesProbably not a substantial claim.
In the paper
“Because both mouse models have upregulated mTOR pathway activity, the authors propose that normal synaptic plasticity and cognition occur within an optimal range of mGluRmediated protein synthesis, such that deviations in either direction can lead to shared behavioral impairments.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Amelioration of the phenotype in the mouse model: a genetic approach
What the sources say
- Not checked yetcites [92] source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“Elevation of the glutamate receptors mGluR1 and mGluR5 and the reduced insertion of AMPA receptors into the postsynaptic membrane are two of the central mechanics of impaired synaptic plasticity in FXS: such a dysregulated signaling is the basis of mGluR theory (75).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Figure 2
What the sources say
- Not checked yetcites [75] source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“The strategy of restoring FMR1 gene activity, which is based on the presence of the intact FMR1 coding sequence, targets potentially reversible epigenetic changes, primarily DNA methylation.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Epigenetic modulators.
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- Rests on an assumption: The FMR1 coding sequence remains intact in fragile X syndrome cells, so restoring gene activity is feasible.
None of the sources cited for this claim have been checked yet.
In the paper
“FMRP activity is regulated in response to metabotropic glutamate receptors (mGluRs) (78), 2-amino-3-(5-methyl-3-oxo-1,2-oxazol-4-yl) propanoic acid (AMPA) receptors (79), γ-aminobutyric acid (GABA) receptors (76,80,81), N-methyl-d-aspartate (NMDA) receptors (82)(83)(84), and the tyrosine kinase or BDNF/NT-3 growth factor (TrkB) receptors (85).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Figure 2
What the sources say
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The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“Two possible approaches are presently being considered for a substantial treatment of FXS: (a) reactivation of the affected gene and (b) compensating for the lack of FMRP.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Therapeutic approaches to FXS
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A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Because the mouse model recapitulates morphological changes and behavioral deficits seen in human patients, these molecular insights have led clinicians to design targeted treatments (see below).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Figure 2
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
- Rests on an assumption: The Fmr1 knockout mouse model reproduces the morphological and behavioral features of human fragile X syndrome closely enough that molecular findings in it can guide targeted treatments for patients.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“In the absence of FMRP, there is an increase in the synthesis of several proteins involved in cytoskeleton remodeling and receptor internalization (i.e., Arc) (Figure 2) as well as reduction of other proteins due to a reduced stability of their mRNAs (i.e., GABA-R subunits).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Figure 2
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In the paper
“The resulting 50% reduction in mGluR5 protein levels in the offspring led to the correction of typical FXS phenotypic features, including spine dysmorphogenesis and audiogenic seizures, and restored mGluR-LTD (90).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Amelioration of the phenotype in the mouse model: a genetic approach
What the sources say
- Not checked yetcites [90] source
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None of the sources cited for this claim have been checked yet.
In the paper
“The GABA receptor system has also been reported as downregulated in FXS, partially due to destabilization of the mRNAs encoding the GABA receptor subunits (76,80,113).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Glutamatergic system.
What the sources say
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In the paper
“No significant improvement in the primary outcome measure or in secondary measures of language, attention/executive function, or behavior was observed when compared with placebo, possibly due to the potency or dosage of CX516 used (105).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Glutamatergic system.
What the sources say
- Not checked yetcites [105] source
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In the paper
“Treatment of young mice with minocycline, a broad-spectrum antibiotic, had a dual effect: increased phosphorylation of GluR1 and subsequent membrane insertion of AMPA receptors (124)”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Glutamatergic system.
What the sources say
- Not checked yetcites [124] source
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In the paper
“Acamprosate, a molecule used to maintain abstinence from alcohol, is able to block NMDA-R as well as activate GABA A -R and was recently tested in three young adult patients with FXS, who showed global benefit (as rated by the CGI-I scale) and marked communication improvement (115).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Glutamatergic system.
What the sources say
- Not checked yetcites [115] source
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In the paper
“Treatment of Fmr1 KO mice with the mGluR antagonist 2-methyl-6-(phenylethynyl)-pyridine (MPEP) (Figure 3B) resulted in suppression of the audiogenic seizure phenotype (106) and rescue of dendritic spine morphology in the Fmr1 KO mouse (107).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Glutamatergic system.
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In the paper
“and mice demonstrated improvements in anxiety and in a cognitive task (125).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Glutamatergic system.
What the sources say
- Not checked yetcites [125] source
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In the paper
“The third tested compound is valproic acid (101), which is already known as a reactivator of silenced genes (102) that appeared to be a weak reactivator of FM (103).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Epigenetic modulators.
What the sources say
Strength:hedged· not yet calibratedCausal:conditional· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“Long term use of a similar mGluR5 antagonist, CTEC, in adult animals corrected elevated hippocampal LTD, protein synthesis, spine dysmorphogenesis, overactive ERK and mTOR signaling, and partially corrected macroorchidism (108).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Glutamatergic system.
What the sources say
- Not checked yetcites [108] source
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In the paper
“Fenobam, used in the past for anxiety treatment (109), was recently tested in adults with FXS (37).Beneficial effects such as reduced anxiety and hyperarousal, improved prepulse inhibition of startle, and better accuracy on a continuous performance task were also reported.”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Glutamatergic system.
What the sources say
- Not checked yetcites [37] source
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In the paper
“Intriguingly, in this small trial, improvements in inappropriate speech, stereotypic behavior, and hyperactivity and efficacy have been reported in adults with FXS who have a fully methylated FM allele but not in those with mosaicism (36).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Glutamatergic system.
What the sources say
- Not checked yetcites [36] Jacquemont, 2011, Sci Transl Med. source
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“FMRP is also required for neural stem and progenitor cell proliferation, differentiation, and survival, suggesting additional mechanisms that could explain certain features of the disease (136).”
§ Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics > Conclusions and perspectives
What the sources say
- Not checked yetcites [136] source
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The paper relies on this without support.
The Fmr1 knockout mouse model reproduces the morphological and behavioral features of human fragile X syndrome closely enough that molecular findings in it can guide targeted treatments for patients.
“Because the mouse model recapitulates morphological changes and behavioral deficits seen in human patients, these molecular insights have led clinicians to design targeted treatments (see below).”
The paper relies on this without support.
The FMR1 coding sequence remains intact in fragile X syndrome cells, so restoring gene activity is feasible.
“The strategy of restoring FMR1 gene activity, which is based on the presence of the intact FMR1 coding sequence, targets potentially reversible epigenetic changes, primarily DNA methylation.”
The authors state this as an assumption.
5-aza-deoxycytidine is effective only on dividing cells, so it would not act on postmitotic neurons.
“Moreover, it is presumed to be effective only on dividing cells, which excludes postmitotic neurons.”
The paper relies on this without support.
Modulating levels of dysregulated proteins can regulate impaired plasticity associated with FXS.
“Another approach to regulate impaired plasticity associated with FXS is to modulate the levels of dysregulated proteins.”
The paper relies on this without support.
FMRP functions in regulating mRNA metabolism in the brain.
“FMRP is largely established to function in regulating mRNA metabolism in brain.”
The paper relies on this without support.
Lack of FMRP causes dysregulated synthesis of synaptic molecules, including elevated levels of several proteins (Arc, αCAMKII, MMP9, GSK-3β, mGluR, NMDA) and reduced GABA and AMPA receptor activity.
“Lack of FMRP leads to a dysregulated synthesis of molecules with key functions at synapses, such as increased levels of Arc, αCAMKII, MMP9, GSK-3β, mGluR, and NMDA and decreased GABA and AMPA receptor activity.”
The paper relies on this without support.
The placebo effect observed in most drug-based trials is significant.
“the significant placebo effect observed in most drug-based trials”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source says what the claim attributes to it.
In the citing paper
“FXS is due to loss of function of the RNA-binding protein FMRP (Bagni et al., 2012, Bassell and Warren, 2008), which regulates dendritic targeting of mRNAs (Dictenberg et al., 2008) and controls protein synthesis and mRNA decay in neuronal soma and at synapses (Bassell and Warren, 2008).”
From CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation (2013) · cites this paper as Bagni et al., 2012
In the citing paper
“Fragile X syndrome is caused by expansion of a cytosine-guanine-guanine (CGG) trinucleotide in the promoter of the fragile X mental retardation (FMR1) gene or, more rarely, due to point mutations [18].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [18]
In the citing paper
“The expansion of the CGG repeat over 200 copies leads to the transcriptional silencing of the gene and loss of the fragile X mental retardation protein (FMRP).”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [18]
In the citing paper
“FMRP is an RNA-binding protein known to interact with specific mRNAs in the brain and regulate synaptic plasticity-dependent local protein synthesis [18, 80, 275].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [18]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
Each contradiction between two passages listed here was confirmed by an independent check.
Normal and intermediate allele ranges overlap
MinorThe paper assigns 45-54 CGG repeats to both normal alleles and gray-zone or intermediate alleles, leaving their classification inconsistent.
“Normal alleles have a number of CGG repeats, ranging from 5 to 54, with a mode of 30.”
“Alleles possessing between 45 and 54 CGG repeats, referred to as gray-zone or intermediate alleles, are proposed to be precursors of PM alleles”
Citations
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Metadata
- Authors
- Bagni, C., Tassone, F., Neri, G., & Hagerman, R.
- Affiliations
- KU Leuven (BE)
- University of California, Davis (US)
- Università Cattolica del Sacro Cuore (IT)
- Corresponding author
- Bagni, Claudia
- Venue
- Journal of Clinical Investigation
- Published
- 2012-12-03
- Volume
- 122
- Issue
- 12
- Pages
- 4314-4322
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC3533539
- OpenAlex
- W2097267337
- Semantic Scholar
- d0bb26d811d90699694fe5287a4f71fdfc128aa8
- Cited by
- 321
- References
- 132
- Citations by year
- 2026: 11 · 2025: 12 · 2024: 22 · 2023: 21 · 2022: 31 · 2021: 25 · 2020: 28 · 2019: 13 · 2018: 20 · 2017: 22 · 2016: 26 · 2015: 23 · 2014: 39 · 2013: 28
- FWCI
- 17.07
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion, other-oa)
- Lirias (submittedVersion, other-oa)
- Funders
- FRAXA Research Foundation
- Compagnia di San Paolo
- National Center for Research Resources (RR-024146, HD02274, HD036071, UL1RR024146)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD036071, HD 02274, P30HD002274, R01HD036071)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- fragile X syndrome, FMR1 gene, FMRP, trinucleotide repeat expansion, intellectual disability, mRNA metabolism, receptor signaling, behavioral interventions, pharmacological interventions, cognitive intervention, autism spectrum disorder
- MeSH terms
- Animals, Autistic Disorder, Fragile X Syndrome, Humans, Synaptic Transmission, Early Diagnosis, Epigenesis, Genetic, Fragile X Messenger Ribonucleoprotein 1, Molecular Targeted Therapy
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