Mitochondrial Genome Variation And Risk Of Bronchopulmonary Dysplasia (bpd) In Argentinian Infants

MARZEC J; CABALLERO M; ACOSTA PL; POLACK FP; KLEEBERGER SR

Congreso; American Thoracic Society Meeting; 2017

Rationale: Bronchopulmonary dysplasia is characterized by vascular damage and impaired lung development in premature infants on mechanical ventilation for respiratory distress. Sequence variants in specific nuclear-coded genes affect mitochondrial (mt) function and contribute to low birth weight and BPD. Excess oxygen also damages highly susceptible mtDNA, reducing the integrity of themitochondrial electron transport chain through electron leakage. We identified significant differences (heteroplasmy and mtDNA sequence) in a neonatal mouse model of hyperoxia-induced acute lung injury that associated with lung phentoypes. In this pilot study we used ultra-deep sequencing to identify mtDNA variations in preterm infants with and without BPD. Methods: Saliva samples werecollected from very low birthweight (