Retrotransposons and pediatric genetic disorders: Importance and implications

Abstract

Pediatric disorders are generally observed to have a greater genetic load than diseases occurring during adulthood. Clinical manifestations of many genetic defects including chromosomal abnormalities and mutations in specific genes appear during childhood. One of the notable mutagens in human cells is mobile DNA element. They possess the ability to move and insert themselves in new genomic locations including critical disease-causing genes. Although our cells inhibit their transport by different mechanisms, factors such as aging and environmental heavy metals have effect on increasing their activities. In this article, we try to go over the features of active human retroelements and highlight their role in the pathology of pediatric genetic disorders. We also propose two mechanisms in which aged parental gametes and embryonic exposure to environmental stresses followed by mobile elements insertion may result in de novo pediatric diseases.

Keywords: Transposable elements; heavy metals; parental aging; pediatric genetic disorders.