Clinical and metabolic phenotypes of Oxford Biobank subjects with variations in human flavin-containing monooxygenase 5 (FMO5).

ABSTRACT:

Introduction

Knockout of the Fmo5 gene in mice led to a lean, slow-ageing phenotype characterised by the presence of 2,3-butanediol isomers in their urine and plasma. Oral treatment of wildtype mice with 2,3-butanediol led to a low cholesterol, low epididymal fat phenotype.

Objectives

Determine if significant, heterozygous coding variations in human FMO5 would give rise to similar clinical and metabolic phenotypes in humans, as in C57BL/6J mice with knockout of the Fmo5 gene and in particular, increased excretion of 2,3-butanediol.

Methods

Recruitment of 12 female, Oxford Biobank volunteers with heterozygous coding variations in FMO5, associated with changed clinical traits, and 12 age- and gender-matched controls. Analysis of the key NMR-based, urine and plasma, meta

SUBMITTER: Everett JR 

PROVIDER: S-EPMC12420700 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature