Origin of breath isoprene in humans is revealed via multi-omic investigations.

ABSTRACT: Plants, animals and humans metabolically produce volatile isoprene (C₅H₈). Humans continuously exhale isoprene and exhaled concentrations differ under various physio-metabolic and pathophysiological conditions. Yet unknown metabolic origin hinders isoprene to reach clinical practice as a biomarker. Screening 2000 individuals from consecutive mass-spectrometric studies, we herein identify five healthy German adults without exhaled isoprene. Whole exome sequencing in these adults reveals only one shared homozygous (European prevalence: <1%) IDI2 stop-gain mutation, which causes losses of enzyme active site and Mg²⁺-cofactor binding sites. Consequently, the conversion of isopentenyl diphosphate to dimethylallyl diphosphate (DMAPP) as part of the cholesterol me

SUBMITTER: Sukul P 

PROVIDER: S-EPMC10542801 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature