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Germline BAP1 mutations induce a Warburg effect.

Angela Bononi1, Haining Yang1, Carlotta Giorgi2

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Individuals with germline BAP1 mutations exhibit distinct metabolic profiles, characterized by increased aerobic glycolysis and reduced mitochondrial respiration. This metabolic shift, detectable in plasma, precedes cancer development and can predict BAP1 status with high accuracy.

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Area of Science:

  • Biochemistry and Metabolism
  • Cancer Genetics
  • Metabolomics

Background:

  • Germline mutations in the BAP1 gene (BAP1+/-) are associated with increased cancer risk.
  • The metabolic alterations preceding cancer development in BAP1+/- individuals are not well understood.
  • Understanding these pre-malignant metabolic changes could offer new avenues for early cancer detection and prevention.

Purpose of the Study:

  • To investigate the metabolic profile differences between individuals with and without germline BAP1 mutations.
  • To determine if metabolic changes associated with BAP1 mutations precede cancer development.
  • To develop a metabolomic model for predicting BAP1 mutation status.

Main Methods:

  • Plasma samples from BAP1+/- individuals and BAP1 wild-type (BAP1WT) controls were analyzed using mass spectrometry (LC-TOF-MS, UPLC-TQ-MS, GC-TOF-MS).
  • In vitro studies utilized primary fibroblasts and mesothelial cells, with BAP1 expression modulated via siRNA.
  • Metabolic assays measured aerobic glycolysis, lactate secretion, mitochondrial respiration, and ATP production.

Main Results:

  • A distinct metabolic profile separation was observed between BAP1+/- and BAP1WT individuals in plasma.
  • BAP1+/- fibroblasts showed increased aerobic glycolysis and lactate, with reduced mitochondrial respiration and ATP production.
  • A metabolomic model accurately predicted BAP1 status (100% accuracy) using plasma data, independent of age, gender, or cell type.

Conclusions:

  • Germline BAP1 mutations induce a metabolic shift towards aerobic glycolysis (Warburg effect) that predates malignancy.
  • This metabolic alteration is specifically linked to BAP1 catalytic activity and can serve as a biomarker for BAP1 status.
  • The findings suggest that metabolic changes can precede carcinogenesis, offering potential for early detection strategies.