Affiliations: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran | Nanotechnology Research Center, Faculty of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran
Note: [] Corresponding author: Seyed Mohammad Akrami, MD, PhD, Department of Medical Genetics, Tehran University of Medical Sciences, Poursina St, Keshavarz BLV, Tehran, Iran. Tel./Fax: +98 21 88953005; E-mail: [email protected]
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, pediatric genetic disorders, parental aging, heavy metals
