The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine in St Louis, St Louis, Missouri, USA.
Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in St Louis, St Louis, Missouri, USA.
J Infect Dis. 2023 Aug 11;228(3):321-331. doi: 10.1093/infdis/jiad187.
Nontuberculous mycobacteria (NTM) are ubiquitous in the environment and an increasingly frequent cause of opportunistic infections. Mycobacterium abscessus complex (MABC) is one of the major NTM lung pathogens that disproportionately colonize and infect the lungs of individuals with cystic fibrosis (CF). MABC infection can persist for years, and antimicrobial treatment is frequently ineffective.
We sequenced the genomes of 175 isolates longitudinally collected from 30 patients with MABC lung infection. We contextualized our cohort amidst the broader MABC phylogeny and investigated genes undergoing parallel adaptation across patients. Finally, we tested the phenotypic consequences of parallel mutations by conducting antimicrobial resistance and mercury-resistance assays.
We identified highly related isolate pairs across hospital centers with low likelihood of transmission. We further annotated nonrandom parallel mutations in 22 genes and demonstrated altered macrolide susceptibility co-occurring with a nonsynonymous whiB1 mutation. Finally, we highlighted a 23-kb mercury-resistance plasmid whose loss during chronic infection conferred phenotypic susceptibility to organic and nonorganic mercury compounds.
We characterized parallel genomic processes through which MABC is adapting to promote survival within the host. The within-lineage polymorphisms we observed have phenotypic effects, potentially benefiting fitness in the host at the putative detriment of environmental survival.
非结核分枝杆菌(NTM)广泛存在于环境中,是机会性感染的一个日益频繁的原因。脓肿分枝杆菌复合体(MABC)是主要的非结核分枝杆菌肺部病原体之一,不成比例地定植和感染囊性纤维化(CF)患者的肺部。MABC 感染可能持续多年,抗菌治疗常常无效。
我们对 30 名 MABC 肺部感染患者的 175 个纵向分离株进行了基因组测序。我们将我们的队列置于更广泛的 MABC 系统发育中,并研究了在患者中发生平行适应的基因。最后,我们通过进行抗菌药物耐药性和汞耐药性测定来测试平行突变的表型后果。
我们在医院中心发现了具有低传播可能性的高度相关的分离株对。我们进一步注释了 22 个基因中的非随机平行突变,并证明了大环内酯类药物敏感性的改变与 whiB1 基因突变同时发生。最后,我们强调了一个 23kb 的汞抗性质粒,其在慢性感染过程中的丢失赋予了对有机和无机汞化合物的表型敏感性。
我们通过 MABC 适应宿主的平行基因组过程进行了特征描述。我们观察到的种内多态性具有表型效应,可能有利于宿主中的适应性,而可能不利于环境中的生存能力。