Metabolomics, the future of biomarkers?

Occelli, Céline; Levraut, Jacques; Pourcher, Thierry

doi:10.1097/mej.0000000000001097

European Journal of Emergency Medicine

2023

DOI: 10.1097/mej.0000000000001097

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Metabolomics, the future of biomarkers?

Céline Occelli,

Jacques Levraut,

Thierry Pourcher

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2024

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Biomarker Landscape in RASopathies

Ferrito,

Báez-Flores,

Rodríguez-Martín

et al. 2024

IJMS

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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.

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Biomarker Landscape in RASopathies

Ferrito,

Báez-Flores,

Rodríguez-Martín

et al. 2024

IJMS

View full text Add to dashboard Cite

show abstract

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Metabolomics, the future of biomarkers?

Cited by 1 publication

References 14 publications

Biomarker Landscape in RASopathies

Biomarker Landscape in RASopathies

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