The effect of BCMO1 genetic polymorphisms on conversion of β-carotene to retinol and association to poor oocyte maturation

Robyn Murphy, Tracy Malone



The significance of Vitamin A in fertility has been established in a number of studies, whereby both deficiency and excess may affect follicular quality and embryonic defects. While retinols role has been the predominant focus, a lesser known influence and arguably of equal importance is the intrafollicular concentrations of β-carotene, the essential precursor to vitamin A. Found to be in the highest concentration within the corpus luteum, Latin for yellow body, β-carotenes brightly coloured pigment is known best as an antioxidant; however, less is known of its potential influence on steroidogenesis and reproductive processes.

Carotenoids are cleaved by carotene oxygenases enzymes, mainly BCMO1. A non-dietary interindividual variability in carotenoid absorption, plasma concentrations and tissue response is observed. With an estimated 45 per cent of the Western population demonstrating low intestinal β-carotene metabolic function, researchers have investigated the impact of genetic polymorphisms to account for functional variations in β-carotene metabolism.  Genetic variants, both near and within the BCMO1 gene, have been found to significantly affect BCMO1 protein expression. Interestingly, animal studies show that local intrafollicular carotenoid and retinoid concentrations are dependent on BCMO1 catalytic activity found within granulosa cells.

The current standard to assess carotenoid status is through serum testing; however, evidence shows that plasma carotenoid and retinol levels fail to accurately reflect tissue concentrations. As advances and accessibility in genetic testing develop, it has been proposed that BCMO1 polymorphism may serve as a novel surrogate biomarker to identify susceptibility to retinol deficiency. (Hendrickson et al., 2013) The aim of this review paper is to evaluate the potential effect of the BCMO1 polymorphism on β-carotene concentrations and the consequence this variation may have on ooctye maturation and infertility.


BCMO1; carotenoid concentrations; oocyte maturation

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