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http://dx.doi.org/10.14348/molcells.2019.0037

Neurodevelopmental Aspects of RASopathies  

Kim, Ye Eun (Division of Integrative Biosciences and Biotechnology, Pohang University of Science and Technology (POSTECH))
Baek, Seung Tae (Division of Integrative Biosciences and Biotechnology, Pohang University of Science and Technology (POSTECH))
Publication Information
Molecules and Cells / v.42, no.6, 2019 , pp. 441-447 More about this Journal
Abstract
RAS gene mutations are frequently found in one third of human cancers. Affecting approximately 1 in 1,000 newborns, germline and somatic gain-of-function mutations in the components of RAS/mitogen-activated protein kinase (RAS/MAPK) pathway has been shown to cause developmental disorders, known as RASopathies. Since RAS-MAPK pathway plays essential roles in proliferation, differentiation and migration involving developmental processes, individuals with RASopathies show abnormalities in various organ systems including central nervous system. The frequently seen neurological defects are developmental delay, macrocephaly, seizures, neurocognitive deficits, and structural malformations. Some of the defects stemmed from dysregulation of molecular and cellular processes affecting early neurodevelopmental processes. In this review, we will discuss the implications of RAS-MAPK pathway components in neurodevelopmental processes and pathogenesis of RASopathies.
Keywords
neurodevelopment; RAS; RASopathy;
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