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Inborn Errors of Metabolism01:20

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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A Multi-Omics Framework for Decoding Disease Mechanisms: Insights From Methylmalonic Aciduria.

Jianbo Fu1, Vito R T Zanotelli2, Cedric Howald3

  • 1Department of Health Sciences and Technology, Institute of Translational Medicine, Swiss Federal Institute of Technology, ETH Zurich, Zurich, Switzerland; Swiss Institute of Bioinformatics (SIB), Lausanne, Switzerland; ETH PHRT Swiss Multi-Omics Center (SMOC), Zurich, Switzerland.

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Summary

Multi-omics data integration reveals key molecular pathways in methylmalonic aciduria (MMA), an inherited metabolic disorder. This approach highlights glutathione metabolism and lysosomal function disruptions, improving understanding of MMA pathogenesis.

Keywords:
correlation network analysisgene set enrichment analysismethylmalonic aciduriamodule analysismulti-omics data integrationpQTLquantitative trait locitranscription factor enrichment analysis

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Area of Science:

  • Genomics
  • Transcriptomics
  • Proteomics
  • Metabolomics
  • Systems Biology

Background:

  • Integrating multi-omics data is crucial for understanding complex diseases with poorly understood mechanisms.
  • Methylmalonic aciduria (MMA) is an inherited metabolic disorder with complex pathogenesis.
  • FAIR multi-omics data from 230 individuals (210 MMA patients, 20 controls) were available for reuse.

Purpose of the Study:

  • To elucidate molecular perturbations in MMA by integrating diverse omics data.
  • To develop and apply advanced data integration strategies for disease mechanism discovery.
  • To identify critical molecular pathways involved in MMA pathogenesis.

Main Methods:

  • Multi-omics data integration (genomic, transcriptomic, proteomic, metabolomic) with clinical and biochemical data.
  • Analysis of protein-quantitative trait loci (pQTLs).
  • Correlation network analyses, gene set enrichment, and transcription factor analyses.

Main Results:

  • Protein-quantitative trait loci analysis identified glutathione metabolism as important in MMA pathogenesis.
  • Integrated multi-omics network analysis revealed compromised lysosomal function in MMA patients.
  • Evidence from multiple omics levels prioritized disruptions in key molecular pathways.

Conclusions:

  • Multi-omics data integration provides a powerful framework for dissecting complex inherited metabolic disorders like MMA.
  • Glutathione metabolism and lysosomal function are critical pathways implicated in MMA.
  • This approach enhances the understanding of disease mechanisms and aids in identifying therapeutic targets.