Neurodevelopmental Aspects of RASopathies

• Published in: Molecules and cells Vol. 42; no. 6; pp. 441 - 447
• Main Authors: Kim, Ye Eun, Baek, Seung Tae
• Format: Journal Article
• Language: English
• Published: United States Korean Society for Molecular and Cellular Biology 01.06.2019; 한국분자세포생물학회
• Subjects: Costello Syndrome - genetics; Ectodermal Dysplasia - genetics; Facies; Failure to Thrive - genetics; Heart Defects, Congenital - genetics; Humans; Infant, Newborn; Minireview; Neoplasms - metabolism; Neurodevelopmental Disorders - genetics; Neurofibromatosis 1 - genetics; Nevus, Sebaceous of Jadassohn - genetics; Noonan Syndrome - genetics; Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics; Proto-Oncogene Proteins B-raf - genetics; Proto-Oncogene Proteins c-raf - genetics; ras Proteins - genetics; Signal Transduction - genetics; SOS1 Protein - genetics; 생물학; neurodevelopment; RAS; RASopathy
• ISSN: 1016-8478; 0219-1032
• DOI: 10.14348/molcells.2019.0037

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.