Genomic mosaicism: A neglected factor that promotes variability in asthma diagnosis

Med Hypotheses. 2019 Jun:127:112-115. doi: 10.1016/j.mehy.2019.04.009. Epub 2019 Apr 13.

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.

Keywords: Asthma; Asthma phenotypes; Endotypes; Genomic mosaicism.

MeSH terms

  • Asthma / diagnosis*
  • Asthma / genetics*
  • Fibroblasts / metabolism
  • Genetic Markers / genetics
  • Genetic Variation
  • Genome, Human*
  • Genomics
  • Humans
  • Mosaicism*
  • Mutation
  • Phenotype

Substances

  • Genetic Markers