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Published on: October 11, 2018
Biomarker Landscape in RASopathies
Noemi Ferrito1,2,3, Juan Báez-Flores1,2,3, Mario Rodríguez-Martín1,2,3
1Laboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca (USAL), 37007 Salamanca, Spain.
Abstract:
RASopathies are a group of related genetic disorders caused by mutations in genes within the RAS/MAPK signaling pathway. This pathway is crucial for cell division, growth, and differentiation, and its disruption can lead to a variety of developmental and health issues. RASopathies present diverse clinical features and pose significant diagnostic and therapeutic challenges. Studying the landscape of biomarkers in RASopathies has the potential to improve both clinical practices and the understanding of these disorders. This review provides an overview of recent discoveries in RASopathy molecular profiling, which extend beyond traditional gene mutation analysis. mRNAs, non-coding RNAs, protein expression patterns, and post-translational modifications characteristic of RASopathy patients within pivotal signaling pathways such as the RAS/MAPK, PI3K/AKT/mTOR, and Rho/ROCK/LIMK2/cofilin pathways are summarized. Additionally, the field of metabolomics holds potential for uncovering metabolic signatures associated with specific RASopathies, which are crucial for developing precision medicine. Beyond molecular markers, we also examine the role of histological characteristics and non-invasive physiological assessments in identifying potential biomarkers, as they provide evidence of the disease's effects on various systems. Here, we synthesize key findings and illuminate promising avenues for future research in RASopathy biomarker discovery, underscoring rigorous validation and clinical translation.
Insights
RASopathies, genetic disorders from RAS/MAPK pathway mutations, show diverse symptoms. Biomarker discovery, including molecular and histological markers, is key for better diagnosis and precision medicine in these conditions.
Area of Science:
- Genetics and Molecular Biology
- Developmental Biology
- Precision Medicine
Background:
- RASopathies are a group of genetic disorders stemming from the RAS/MAPK signaling pathway.
- Mutations in this pathway disrupt cell division, growth, and differentiation, leading to varied health issues.
- Diverse clinical presentations and challenges in diagnosis and treatment necessitate advanced research.
Purpose of the Study:
- To review recent advancements in RASopathy molecular profiling beyond gene mutations.
- To explore potential biomarkers, including molecular, histological, and physiological markers.
- To highlight future research directions for biomarker discovery and clinical translation.
Main Methods:
- Summarizing findings on molecular profiles: mRNAs, non-coding RNAs, protein expression, and post-translational modifications.
- Reviewing the role of metabolomics in identifying disease-specific metabolic signatures.
- Examining histological characteristics and non-invasive physiological assessments for biomarker identification.
Main Results:
- Recent discoveries extend beyond traditional gene mutation analysis in RASopathies.
- Various molecular markers (RNA, proteins, metabolites) and physiological assessments show promise.
- Histological features also offer insights into disease mechanisms and potential biomarkers.
Conclusions:
- Biomarker discovery in RASopathies is crucial for improving clinical practices and understanding these complex disorders.
- A multi-faceted approach, integrating molecular, histological, and physiological data, is essential.
- Rigorous validation and clinical translation are paramount for realizing the potential of these biomarkers in precision medicine.
