Genomic insights into acute inflammatory lung injury

Joe G.N. Garcia, Liliana Moreno Vinasco

Research output: Contribution to journalArticlepeer-review

31 Scopus citations

Abstract

Acute lung injury (ALI) is a devastating syndrome (usually associated with sepsis) that represents a major healthcare burden in the United States. We have focused our studies on unraveling the genetic underpinnings of this syndrome utilizing a candidate gene approach to identify novel genes for ALI susceptibility. Two novel genes identified by this approach include pre-B cell colony-enhancing factor (PBEF) and the gene for myosin light chain kinase (MLCK). PBEF protein levels were elevated in human bronchoalveolar lavage and serum samples from patients with ALI, and DNA sequencing identified two single nucleotide polymorphisms in the PBEF promoter (T-1001G, C-1543T) that were overrepresented in patients with sepsis-induced ALI. More recently, we found MLCK single polymorphisms and haplotypes to be associated with human ALI with unique variants observed in African-Americans with ALI. Thus genomic and genetic approaches represent powerful strategies in the identification of novel candidate genes and potential targets for ALI therapies.

Original languageEnglish (US)
Pages (from-to)L1113-L1117
JournalAmerican Journal of Physiology - Lung Cellular and Molecular Physiology
Volume291
Issue number6
DOIs
StatePublished - Dec 2006

Keywords

  • Acute respiratory distress syndrome
  • Haplotype
  • Mechanical ventilation
  • Single nucleotide polymorphisms

ASJC Scopus subject areas

  • Physiology
  • Pulmonary and Respiratory Medicine
  • Physiology (medical)
  • Cell Biology

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