Skip to main content
SpringerLink
Log in

Epilogue: Perspectives and Caveats

  • Protocol
  • First Online:
Organism Models of Autism Spectrum Disorders

Part of the book series: Neuromethods ((NM,volume 100))

  • 1100 Accesses

Abstract

Two techniques of potential usefulness for understanding autism have come to the surface since the book was planned. The first is the Induced Pluripotent Stem Cells (iPSC) technology. Reprogramming has been recognized as a potential tool for rescuing impaired functions but it is also a good way for modeling diseases at the cellular level. We consider the first uses of IPSC in the field of rare genetic diseases associated with autism. A second technique is optogenetics that can be considered as making possible to link spatial, temporal and functional aspects of a nerve tissue. Its usefulness in modeling brain disorders is discussed. We revisit the susceptibility gene concept. We draw finally conclusion for treatment from the etiological heterogeneity of autism.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Protocol
USD 49.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Xu X et al (2001) Effect of the structure of natural sterols and sphingolipids on the formation of ordered sphingolipid/sterol domains (rafts). Comparison of cholesterol to plant, fungal, and disease-associated sterols and comparison of sphingomyelin, cerebrosides, and ceramide. J Biol Chem 276(36):33540–33546

    Article  CAS  PubMed  Google Scholar 

  2. Wells RD (2009) Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats. J Biol Chem 284(12):7407–7411

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  3. Kondapalli KC et al (2013) Functional evaluation of autism-associated mutations in NHE9. Nat Commun 4:2510

    Article  PubMed  Google Scholar 

  4. Serfontein J, Nisbet RE, Howe CJ, de Vries PJ (2010) Evolution of the TSC1/TSC2-TOR signaling pathway. Sci Signal 3(128):ra49

    Article  PubMed  Google Scholar 

  5. Takahashi K, Ichisaka T, Yamanaka S (2006) Identification of genes involved in tumor-like properties of embryonic stem cells. Methods Mol Biol 329:449–458

    PubMed  Google Scholar 

  6. Takahashi K, Okita K, Nakagawa M, Yamanaka S (2007) Induction of pluripotent stem cells from fibroblast cultures. Nat Protocol 2(12):3081–3089

    Article  CAS  Google Scholar 

  7. Takahashi K et al (2007) Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131(5):861–872

    Article  CAS  PubMed  Google Scholar 

  8. Takahashi K, Yamanaka S (2006) Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 126(4):663–676

    Article  CAS  PubMed  Google Scholar 

  9. Niwa H, Miyazaki J, Smith AG (2000) Quantitative expression of Oct-3/4 defines differentiation, dedifferentiation or self-renewal of ES cells. Nat Genet 24(4):372–376

    Article  CAS  PubMed  Google Scholar 

  10. Ellis P et al (2004) SOX2, a persistent marker for multipotential neural stem cells derived from embryonic stem cells, the embryo or the adult. Dev Neurosci 26(2–4):148–165

    Article  CAS  PubMed  Google Scholar 

  11. Shields JM, Christy RJ, Yang VW (1996) Identification and characterization of a gene encoding a gut-enriched Kruppel-like factor expressed during growth arrest. J Biol Chem 271(33):20009–20017

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  12. Gearhart J, Pashos EE, Prasad MK (2007) Pluripotency redux – advances in stem-cell research. New Engl J Med 357(15):1469–1472

    Article  CAS  PubMed  Google Scholar 

  13. Abdullah AI, Pollock A, Sun T (2012) The path from skin to brain: generation of functional neurons from fibroblasts. Mol Neurobiol 45(3):586–595

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  14. Chen YJ et al (2010) ErbB4 in parvalbumin-positive interneurons is critical for neuregulin 1 regulation of long-term potentiation. Proc Natl Acad Sci U S A 107(50):21818–21823

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  15. Cheng C, Sourial M, Doering LC (2012) Astrocytes and developmental plasticity in fragile X. Neural Plast 2012:197491

    PubMed Central  PubMed  Google Scholar 

  16. Eiges R et al (2007) Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell 1(5):568–577

    Article  CAS  PubMed  Google Scholar 

  17. Marchetto MC et al (2010) A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell 143(4):527–539

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  18. Marchetto MC, Winner B, Gage FH (2010) Pluripotent stem cells in neurodegenerative and neurodevelopmental diseases. Hum Mol Genet 19(R1):R71–R76

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  19. Liu J et al (2012) Signaling defects in iPSC-derived fragile X premutation neurons. Hum Mol Genet 21(17):3795–3805

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  20. Jacobs S, Cheng C, Doering LC (2012) Probing astrocyte function in fragile X syndrome. Results Probl Cell Differ 54:15–31

    Article  CAS  PubMed  Google Scholar 

  21. Jacobs S, Doering LC (2010) Astrocytes prevent abnormal neuronal development in the fragile x mouse. J Neurosci 30(12):4508–4514

    Article  CAS  PubMed  Google Scholar 

  22. Jacobs S, Nathwani M, Doering LC (2010) Fragile X astrocytes induce developmental delays in dendrite maturation and synaptic protein expression. BMC Neurosci 11:132

    Article  PubMed Central  PubMed  Google Scholar 

  23. Yizhar O, Fenno LE, Davidson TJ, Mogri M, Deisseroth K (2011) Optogenetics in neural systems. Neuron 71(1):9–34

    Article  CAS  PubMed  Google Scholar 

  24. Haubensak W et al (2010) Genetic dissection of an amygdala microcircuit that gates conditioned fear. Nature 468(7321):270–276

    Article  CAS  PubMed Central  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Aix Marseille Université Inserm, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, 27 Bd. Jean Moulin, 13385, Marseille cedex 5, France

    Pierre L. Roubertoux

  2. INSERM, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, 27 Bd. Jean Moulin, 13385, Marseille cedex 5, France

    Pierre L. Roubertoux

Authors
  1. Pierre L. Roubertoux
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Pierre L. Roubertoux .

Editor information

Editors and Affiliations

  1. Inserm GMGF UMR_S 910, Génomique Fonctionnelle INSERM UMR_S 910, Aix Marseille Université, Génétique Médicale, Marseille, France

    Pierre L. Roubertoux

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer Science+Business Media New York

About this protocol

Cite this protocol

Roubertoux, P.L. (2015). Epilogue: Perspectives and Caveats. In: Roubertoux, P. (eds) Organism Models of Autism Spectrum Disorders. Neuromethods, vol 100. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-2250-5_19

Download citation

  • DOI: https://doi.org/10.1007/978-1-4939-2250-5_19

  • Published:

  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-2249-9

  • Online ISBN: 978-1-4939-2250-5

  • eBook Packages: Springer Protocols

Publish with us

Policies and ethics

Search

Navigation