Alteration of the Signal Transduction Pathway in RASopathies as a Basis of Targeted Therapeutic Drug Development

Made Ananda Krisna, Yulia Ariani Aswin

2020

Abstract

Ras/mitogen-activated protein kinase (MAPK) pathway is one of the most critical intracellular signalling cascades, relaying the extracellular signal in the form of growth factor into specific responses. The primary responses of Ras/MAPK pathway activation are cellular proliferation and differentiation. Therefore, a mutation in genes encoding one of its components or regulators causes a severe developmental disorder. RASopathy is a group of genetic syndromes originating from a germline mutation in the Ras/MAPK pathway's regulators' genes encoding components. More than 20 genes are associated with and seven syndromes included in RASopathy: Noonan, LEOPARD, neurofibromatosis type 1, CM-AVM, Costello, cardio-facio-cutaneous, and Legius syndrome. Genotype-phenotype associations in RASopathy are complicated, the mutation in one gene could result in different syndromes, while a mutation in different genes could cause one syndrome. Molecular diagnostic at the genomic level is crucial in establishing the definitive diagnosis and as the basis for targeted therapy. Several therapeutic agents target the MAPK pathway, but they have been mainly utilized in malignancy cases in which aberrant MAPK pathway was detected. Research in targeted therapeutic drug development in RASopathy is still limited, yet it is eminently needed for further elaboration.

Paper Citation

in Harvard Style

Krisna M. and Aswin Y. (2020). Alteration of the Signal Transduction Pathway in RASopathies as a Basis of Targeted Therapeutic Drug Development.In Proceedings of the 1st Jenderal Soedirman International Medical Conference in conjunction with the 5th Annual Scientific Meeting (Temilnas) Consortium of Biomedical Science Indonesia - Volume 1: JIMC, ISBN 978-989-758-499-2, pages 318-329. DOI: 10.5220/0010492003180329

in Bibtex Style

@conference{jimc20,
author={Made Ananda Krisna and Yulia Ariani Aswin},
title={Alteration of the Signal Transduction Pathway in RASopathies as a Basis of Targeted Therapeutic Drug Development},
booktitle={Proceedings of the 1st Jenderal Soedirman International Medical Conference in conjunction with the 5th Annual Scientific Meeting (Temilnas) Consortium of Biomedical Science Indonesia - Volume 1: JIMC,},
year={2020},
pages={318-329},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0010492003180329},
isbn={978-989-758-499-2},
}

in EndNote Style

TY - CONF

JO - Proceedings of the 1st Jenderal Soedirman International Medical Conference in conjunction with the 5th Annual Scientific Meeting (Temilnas) Consortium of Biomedical Science Indonesia - Volume 1: JIMC,
TI - Alteration of the Signal Transduction Pathway in RASopathies as a Basis of Targeted Therapeutic Drug Development
SN - 978-989-758-499-2
AU - Krisna M.
AU - Aswin Y.
PY - 2020
SP - 318
EP - 329
DO - 10.5220/0010492003180329