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Craniofacial, orofacial and dental disorders: the role of the RAS/ERK pathway

Published online by Cambridge University Press:  13 March 2019

Angeliki Vogiatzi  and
George Mavrothalassitis Open the ORCID record for George Mavrothalassitis [Opens in a new window]
Angeliki Vogiatzi
Affiliation:
School of Medicine, University of Crete, Crete, Greece
George Mavrothalassitis*
Affiliation:
School of Medicine, University of Crete, Crete, Greece IMBB, FORTH, Heraklion, Crete 71003, Greece
*
Corresponding author: George Mavrothalassitis E-mail: mavro@imbb.forth.gr
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Abstract

Deviations from the precisely coordinated programme of human head development can lead to craniofacial and orofacial malformations often including a variety of dental abnormalities too. Although the aetiology is still unknown in many cases, during the last decades different intracellular signalling pathways have been genetically linked to specific disorders. Among these pathways, the RAS/extracellular signal-regulated kinase (ERK) signalling cascade is the focus of this review since it encompasses a large group of genes that when mutated cause some of the most common and severe developmental anomalies in humans. We present the components of the RAS/ERK pathway implicated in craniofacial and orodental disorders through a series of human and animal studies. We attempt to unravel the specific molecular targets downstream of ERK that act on particular cell types and regulate key steps in the associated developmental processes. Finally we point to ambiguities in our current knowledge that need to be clarified before RAS/ERK-targeting therapeutic approaches can be implemented.

Keywords

Craniofacial disordersdental abnormalitiesERK signalling pathwayhead developmentorofacial abnormalities
Type
Review
Information
Expert Reviews in Molecular Medicine , Volume 21 , 2019 , e2
Copyright
Copyright © Cambridge University Press 2019 

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