ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2022) 19 15.17 | DOI: 10.1530/ey.19.15.17


Nat Metab. 2021;3(11):1552-68. doi: 10.1038/s42255-021-00481-w.PubMed ID: 34697471

Brief summary: This study identified a genetic locus on mouse chromosome 17, containing the gene Ndufv2, that controls mitochondrial mass and function in adipose tissue in a sex- and tissue-specific manner. In female mice, Ndufv2 regulated the expression of 89 mitochondrial genes, with involvements in oxidative phosphorylation and mitochondrial DNA content.

These authors identified a female-specific autosomal locus, which regulates the adipose tissue expression of ~10% of the 1200 mitochondrial genes. Many of the regulated genes are involved in oxidative phosphorylation or mitochondrial DNA content. This genetic locus showed female-specific associations with obesity-related traits.

Although sex-specific biological mechanisms are to be expected, for too long, animal models and also human clinical trials often focused on only one sex (usually males) to achieve ‘greater efficiency’ by reducing one possible source of heterogeneity. In March 2022, the UK Medical Research Council (MRC) published a Summary Report on ‘Sex in experimental design’, which signalled the intent of this national funding body to mandate the inclusion of both sexes by default in all of its funded research, whether in humans, animals or cell-based (1). It warned that research proposals that fail to recognise the importance of sex will likely be rejected. They acknowledged the additional costs of conducting larger experiments and committed to providing such increased funding as long as studies are robustly designed.

Similarly, when we read research papers, we should look out to see whether any findings have been shown to affect both sexes equally or display evidence of being sex-specific.

Reference: 1. https://www.ukri.org/publications/sex-in-experimental-design-summary-report/

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