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Review
. 2009:56:165-86.
doi: 10.1016/j.yapd.2009.08.008.

Fragile X: a family of disorders

Weerasak Chonchaiya  1 , Andrea Schneider, Randi J Hagerman
Affiliations
Review

Fragile X: a family of disorders

Weerasak Chonchaiya et al. Adv Pediatr. 2009.
No abstract available

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Figures

Figure 1
Figure 1. Relation of FMRP and mRNA in FXS
Schematic representation of the function of FMR 1 gene and relationship among CGG repeat numbers, mRNA level and FMRP (fragile X mental retardation protein) production in normal, premutation and full mutation individuals.
Figure 2
Figure 2. The impact of FMRP on Protein Interactions in the cell
Cascade of reactions leading to LTD (Long Term Depression) and interactions with FMRP. The dotted lines are hypothetical and the T-shaped line is an inhibitory effect. 5′ TOP mRNAs = 5′ Terminal Oligo Pyrimidine mRNAs that code for proteins important for translation; Akt = protein kinase B (PKB); CYFIP = cytoplasmic interacting FMR1 protein; elF4E = E74-like factor 4 – expressed, translation initiation factor, cap-binding; ERK = extracellular signal-regulated kinases, synonym for mitogen-activated protein kinase (MAPK); FMRP = fragile X mental retardation protein; Homer = scaffolding protein; MAPB1 = microtubule-associated protein 1B; MEK = (MAPK) mitogen-activated protein kinase; mGluR= metabotropic glutamate receptors; Mnk = MAP kinase integrating kinase; mTOR = mammalian target of rapamycin/FK506 binding protein 12-rapamycin associated protein 1 (FRAP1); NMDA-R = ionotropic N-methyl-D-aspartic acid receptor; P-4EBP = phosphorylated emopamil binding protein (sterol isomerase); P70 S6K = p70 ribosomal S6 protein kinase; PAK3 = P21 (CDKN1A)-activated kinase 3; PDK = 3-phosphoinositide-dependant protein kinase; PI3K = class I phosphoinositide3-kinases; PIKE = PI 3-kinase enhancer, GTPase, enhances PI 3-kinase (PI3K) activity; PIP = prolactin-induced protein; PSD95 = post synaptic density protein; PTEN= phosphatase and tensin homolog; Rac/Ras = small guanosine triphosphatases (intracellular molecular switches)
Figure 3
Figure 3. The mGluR hypothesis of FXS (modified from Bear et al. 2004) [35]
Reduction of synaptic strength in the dendritic tree in fragile X syndrome compared to normal. This figure was modified from Bear et al. 2004.
Figure 4
Figure 4. Biochemical Pathways of FXS: theoretical impact of mGluR5 Antagonists
mGluR1/5 pathways in normals and in those with fragile X syndrome after the use of an mGluR5 antagonist.
See this image and copyright information in PMC

References

    1. Hagerman RJ, Rivera SM, Hagerman PJ. The fragile X family of disorders: A model for autism and targeted treatments. Current Pediatric Reviews. 2008;4(1):40–52.
    1. Wittenberger MD, Hagerman RJ, Sherman SL, et al. The FMR1 premutation and reproduction. Fertil Steril. 2007;87(3):456–65. - PubMed
    1. Roberts JE, Bailey DB, Jr, Mankowski J, et al. Mood and anxiety disorders in females with the FMR1 premutation. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:130–39. - PubMed
    1. Hessl D, Tassone F, Loesch DZ, et al. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet. 2005;139(1):115–21. - PubMed
    1. Coffey SM, Cook K, Tartaglia N, et al. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A. 2008;146(8):1009–16. - PMC - PubMed

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