Child Abuse: Clinical, Genetic and Epigenetic correlates

Introduction. Childhood abuse and neglect has considered as a powerful mediator of a wide range of neuropsychiatric diseases, including the Post-traumatic Stress disorder (PTSD). However, the effects of a childhood trauma may vary considerably with a broad range of clinical outcomes largely attributed both to genetic and epigenetic factors. Accumulating evidence has suggested a more specific molecular recognition of 'endophenotypes' among maltreated individuals to enhance treatment response and predict harmful consequences in later life. Purpose. In order to promote advances in early diagnosis of maltreated victims, we have performed a targeted sequencing analysis to evaluate the genetic predisposition and epigenetic influence in developing disease onset and progression. Materials and Methods. In this study, we isolated DNA from blood samples to performing Next Generation Sequencing panels and clinical exome sequencing. We have realized two custom panels by using software-suite for the Ion Torrent platform aimed at analyzing putative risk genes PTSD child abuse-related and secondly, at identifying global and specific changes in DNA methylation state in response to childhood abuse. Results. Our preliminary data seem to identify a unique pattern assigned for each (Epi)genotype-phenotype correlation. Conclusions. Given the promising results obtained from the high-throughput technology, the present research activity might lead to improve diagnosis, provide new care pathways and promote the identification of new targets, which may be exploited for the pharmacological interventions of the PTSD associated to childhood abuse.