Rett syndrome and stem cell research

Keita Tsujimura, Kinichi Nakashima

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Rett syndrome (RTT) is a devastating neurodevelopmental disorder resulting from mutations in the X-linked gene encoding methyl-CpG-binding pro- tein 2 (MECP2). MECP2 mutations are also associated with other neurodevelop- mental diseases, including autism and schizophrenia. Therefore, elucidating the mechanism of RTT can contribute to understanding the pathogenesis of a wide range of neurodevelopmental diseases. Despite its importance, however, the RTT pathogenesis remains unclear, and effective therapeutic treatment has not been developed. Offering an opportunity to move toward this goal, however, is the recent advance in the stem cell research field of the development of induced pluripotent stem cell (iPSC) technology. This technology can yield important insights into dis- ease pathophysiology and has the potential to provide disease models for screening new drugs. Here, we discuss applications of recent stem cell technology to the field of research on RTT and describe the stem cell biology of RTT pathogenesis.

Original languageEnglish
Title of host publicationStem Cell Genetics for Biomedical Research
Subtitle of host publicationPast, Present, and Future
PublisherSpringer International Publishing
Pages27-41
Number of pages15
ISBN (Electronic)9783319906959
ISBN (Print)9783319906942
DOIs
Publication statusPublished - Jun 27 2018

Fingerprint

Rett Syndrome
Stem Cell Research
Stem cells
Methyl-CpG-Binding Protein 2
Technology
Cytology
Stem Cells
Gene encoding
Induced Pluripotent Stem Cells
X-Linked Genes
Mutation
Preclinical Drug Evaluations
Autistic Disorder
Screening
Research
Cell Biology
Schizophrenia
Pharmaceutical Preparations
Therapeutics

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Tsujimura, K., & Nakashima, K. (2018). Rett syndrome and stem cell research. In Stem Cell Genetics for Biomedical Research: Past, Present, and Future (pp. 27-41). Springer International Publishing. https://doi.org/10.1007/978-3-319-90695-9_3

Rett syndrome and stem cell research. / Tsujimura, Keita; Nakashima, Kinichi.

Stem Cell Genetics for Biomedical Research: Past, Present, and Future. Springer International Publishing, 2018. p. 27-41.

Research output: Chapter in Book/Report/Conference proceedingChapter

Tsujimura, K & Nakashima, K 2018, Rett syndrome and stem cell research. in Stem Cell Genetics for Biomedical Research: Past, Present, and Future. Springer International Publishing, pp. 27-41. https://doi.org/10.1007/978-3-319-90695-9_3
Tsujimura K, Nakashima K. Rett syndrome and stem cell research. In Stem Cell Genetics for Biomedical Research: Past, Present, and Future. Springer International Publishing. 2018. p. 27-41 https://doi.org/10.1007/978-3-319-90695-9_3
Tsujimura, Keita ; Nakashima, Kinichi. / Rett syndrome and stem cell research. Stem Cell Genetics for Biomedical Research: Past, Present, and Future. Springer International Publishing, 2018. pp. 27-41
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