DNA trinucleotide (GAA) repeats in human genome: hint for disease pathogenesis?

Himanshu Narayan Singh, Barbara Scheiber-Mojdehkar, and Moganty R. Rajeswari, Journal of Biomolecular Structure and Dynamics Vol. 0 , Iss. ja,0 (posted online: 12 Jun 2017) doi:10.1080/07391102.2017.1341336

Short DNA triplet repeats are generally considered to ‘benign’ in nature, however, it can lead to abnormal genetic features by inducing hyper expansion including mutational hotspots, unusual DNA structure etc. Thus, the expanded DNA base triplets in human genome are expected to play crucial role in disease pathogenesis. One such triplet repeat expansion of (GAA) is observed in FXN gene which is well established to cause neurological disease “Friedreich’s ataxia”. Network analyses on disease associated genes were involved with signaling cascade which could be potential target in order to combat disease conditions. Therefore, the genes identified in the present study can throw light on the understanding of role of (GAA) repeats in various disease phenotypes. However, they are required to be further investigated in the in-vitro conditions.