mtDNA-CN loci influence mitochondrial gene expression and heteroplasmy
We postulated that mtDNA-CN loci may regulate copy number by inducing changes in expression of genes that are directly transcribed from mtDNA. Ali et al. Recently conducted a GWAS to identify nuclear genetic variants associated with variation in mtDNA-encoded gene expression (i.e. mt-eQTLs). Nonsynonymous variants in LONP1 (rs11085147) and TBRG4 (rs230469). Nominally associated mtDNA-CN loci were also observed to influence MT gene expression including intronic variants in both PNPTand LRPPRC.
nostril that has more mucus (head should be inclined from
vertical for proper specimen collection).
- Moreover, the direction of effect estimates between mtDNA-CN
- and mt-eQTLs varied depending on gene and tissue context.
- Altogether, such findings imply that some mtDNA-CN loci may
- egulate mtDNA-CN by influencing mitochondrial gene expression.
Although differences in mitochondrial gene expression may be a consequence rather than a cause of variable mtDNA-CN, the analysis performed by Ali et al (2019) was corrected for factors associated with global changes in the mitochondrial transcriptome.