Опубликована: Март 22, 2024
The sheer number of gene variants and the extent observed clinical molecular heterogeneity recorded in neuropsychiatric disorders (NPDs), could be due to magnified downstream effects initiated by a smaller group genomic higher order alterations response endogenous or environmental stress. Chromosomal common fragile sites (CFS) are functionally linked with microRNA’s, copy (CNVs), sub-microscopic deletions duplications DNA, rare single-nucleotide (SNVs/SNPs) small insertions/deletions (indels), as well chromosomal translocations, duplications, altered methylation, microRNA L1 transposon activity 3-D topology characteristics. These structural features have been various NPDs mostly isolated reports, usually only viewed areas harboring potential candidate genes interest. suggestion use level entry point, (the ‘fragilome’ associated features), activated central mechanism (‘stress’) for studying NPD genetics, has unify existing vast different observations this field. This approach may explain continuum findings distributed between affected unaffected individuals, clustering phenotypes overlapping comorbidities, extensive association certain other medical disorders.
Язык: Английский