Genomic mosaicism: A neglected factor that promotes variability in asthma diagnosis. (June 2019)

• Record Type: Journal Article
• Authors: de Bittencourt Buss, Thiago; Mroginski, Leonardo; de Jesus, Gabriel Moojen; Forcellini, Sofia; Didoné, Ana Vitória Lucion; Mayer, Fabiana Quoos; Vargas, José Eduardo
• Is Part Of: Medical hypotheses. Volume 127(2019)
• Page Start: 112
• Page End: 115
• Publication Date: 2019-06
• Subjects: Asthma -- Genomic mosaicism -- Endotypes -- Asthma phenotypes; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Medicine; Periodicals; 610
• DOI: 10.1016/j.mehy.2019.04.009
• Languages: English
• ISSNs: 0306-9877

Abstract

Abstract: To elucidate the genetic architecture of asthma continues to be a challenge for molecular biologists and medical researchers. However, powerful genomic technologies are at disposal to help decipher complete human genomes; the genetic variability in asthma hinders the discovery of common molecular markers for this disease. In this context, we purpose to explore genomic mosaicism on asthma cells' biology as a strategy to discover key mechanisms, which can complement or re-define asthma diagnosis. Recent evidences showed that genomic mosaicism could be a normal event. In brains, each neuron may harbor hundreds of genetic alterations, which may contribute to neuronal diversity. Thus, can mosaicism be a natural motor of diversity in asthma? Why this genetic event is little described in scientific literature? To discuss these questions, we perform a critical review about the normality of genomic mosaicism; moreover, we examine the difficulty of current experimental approaches to detect different genotypes in cell populations of one individual.