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

Autor: de Bittencourt Buss T; Laboratório de Genética e Biologia Molecular, Instituto de Ciências Biológicas (ICB), Universidade de Passo Fundo (UPF), Campus I, km 171, BR 285, P.O. Box 611, CEP 99001-970 Passo Fundo, RS, Brazil., Mroginski L; Laboratório de Genética e Biologia Molecular, Instituto de Ciências Biológicas (ICB), Universidade de Passo Fundo (UPF), Campus I, km 171, BR 285, P.O. Box 611, CEP 99001-970 Passo Fundo, RS, Brazil., de Jesus GM; Laboratório de Genética e Biologia Molecular, Instituto de Ciências Biológicas (ICB), Universidade de Passo Fundo (UPF), Campus I, km 171, BR 285, P.O. Box 611, CEP 99001-970 Passo Fundo, RS, Brazil., Forcellini S; Laboratório de Genética e Biologia Molecular, Instituto de Ciências Biológicas (ICB), Universidade de Passo Fundo (UPF), Campus I, km 171, BR 285, P.O. Box 611, CEP 99001-970 Passo Fundo, RS, Brazil., Didoné AVL; Laboratório de Genética e Biologia Molecular, Instituto de Ciências Biológicas (ICB), Universidade de Passo Fundo (UPF), Campus I, km 171, BR 285, P.O. Box 611, CEP 99001-970 Passo Fundo, RS, Brazil., Mayer FQ; Laboratório de Biologia Molecular, Instituto de Pesquisas Veterinárias Desidério Finamor (IPVDF), Estrada do Conde, 6000 Eldorado do Sul, RS 92990-000, Brazil., Vargas JE; Laboratório de Genética e Biologia Molecular, Instituto de Ciências Biológicas (ICB), Universidade de Passo Fundo (UPF), Campus I, km 171, BR 285, P.O. Box 611, CEP 99001-970 Passo Fundo, RS, Brazil. Electronic address: josevargas@upf.br.
Jazyk: angličtina
Zdroj: Medical hypotheses [Med Hypotheses] 2019 Jun; Vol. 127, pp. 112-115. Date of Electronic Publication: 2019 Apr 13.
DOI: 10.1016/j.mehy.2019.04.009
Abstrakt: 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.
(Copyright © 2019 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE