Diseases and their clinical heterogeneity - Are we ignoring the SNiPers and micRomaNAgers? An illustration using Beta-thalassemia clinical spectrum and fetal hemoglobin levels.
Diseases and pathological ailments are known to perplex clinicians and researchers with their varied clinical manifestations. Such variations are mostly attributed to the complex interplays between numerous molecular players and their modifiers. This complexity in turn baffles scientists further to tweak multiple players together when attempting to identify definitive therapeutic interventions. In this pursuit, researchers often tend to ignore one of the commonest known genetic variations - single nucleotide polymorphisms (SNPs) in non-coding genetic regions. In this study, we demonstrate how SNPs in critical genes and their miRNA regulators may play a crucial role in varied clinical manifestations using the beta-thalassemia clinical spectrum and fetal hemoglobin levels (HbF) as an illustration. A methodological approach using freely available bioinformatics tools was able to identify SNPs in pre-miRNA regions, pre-miRNA flanking regions and miRNA binding sites which in turn are expected to alter the translation process and thereby the expression of HbF.
['Das|Sankha Subhra|SS|', 'Mitra|Anik|A|', 'Chakravorty|Nishant|N|']
D018899:CpG Islands D030541:Databases, Genetic D005319:Fetal Hemoglobin D005786:Gene Expression Regulation D018740:Genetic Heterogeneity D000076610:Genetic Profile D006801:Humans D035683:MicroRNAs D020641:Polymorphism, Single Nucleotide D011401:Promoter Regions, Genetic D054730:Protein Interaction Domains and Motifs D017086:beta-Thalassemia
Clinical heterogeneity Beta-thalassemia Fetal hemoglobin SNPs miRNAs