Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders.

TitleProliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders.
Publication TypeJournal Article
Year of Publication2016
AuthorsErnst C
JournalTrends Neurosci
Volume39
Issue5
Pagination290-9
Date Published2016 May
ISSN1878-108X
Abstract

Several lines of evidence suggest that proliferation and differentiation in neural stem cells (NSCs) are a major convergence point of neurodevelopmental disorders (NDDs). Most genes with truncating mutations are implicated in NSC proliferation and differentiation (e.g., MBD5, CDKL5, and MECP2). Similarly, reciprocal deletion/duplication copy-number variants (CNVs), such as 1q21.1 and 16p11.2, are inversely correlated with head size. In addition, pathways such as MAPK, mTOR, and RAS, which are important in cancer, a disease of uncontrolled cell proliferation, are implicated in NDDs. These deficits are a measurable output of patient-derived induced neural progenitor cells, and may represent a diagnostic tool and a possible clinical intervention point for molecular therapies, irrespective of genotype.

DOI10.1016/j.tins.2016.03.001
Alternate JournalTrends Neurosci.
PubMed ID27032601

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