SNPs in microRNA target sites and their potential role in human disease

Adrianna Moszyńska, Magdalena Gebert, James F. Collawn, Rafał Bartoszewski; Open Biology, The Royal Society Publishing, Published 5 April 2017.DOI: 10.1098/rsob.170019

FXN | miR-124-3p: Reduced expression of the mitochondrial frataxin (FXN) protein has been postulated to play a role in Friedreich's ataxia (FRDA), an inherited neurodegenerative disease. Lower levels of frataxin are due to GAA repeat expansion in the FXN gene. Additionally, Bandiera et al. have suggested that miR-124-3p regulates FXN expression in vivo only in FRDA patients. They identified seven SNPs in the 3′-UTR of FXN in children and adults diagnosed with FRDA. One of them, rs11145043 (G>T), permits miR-124-3p binding only when the T allele is present. Although miR-124-3p is highly expressed in the nervous system, it is overexpressed in FRDA patients, suggesting its role in FRDA. However, its influence on FXN needs further clarification.