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

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 ). S...

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Bibliographic Details
Published in:Trends in neurosciences (Regular ed.) 2016-05, Vol.39 (5), p.290-299
Main Author: Ernst, Carl
Format: Article
Language:English
Subjects:
cancer
Cell Differentiation - physiology
Cell Proliferation - physiology
Developmental disabilities
differentiation
Humans
induced pluripotent stem cell
macrocephaly
microcephaly
Mutation
neural stem cells
Neural Stem Cells - cytology
neurodevelopmental disorders
Neurodevelopmental Disorders - genetics
Neurodevelopmental Disorders - pathology
Neurological disorders
Neurology
proliferation
Stem cells
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Summary: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.
ISSN:0166-2236
1878-108X
DOI:10.1016/j.tins.2016.03.001