National Reference Laboratory for Mycobacteria, Department of Infectious Diseases, National Institute of Health (INSA), Lisbon, Portugal.
Genomics and Bioinformatics Unit, Department of Infectious Diseases, National Institute of Health (INSA), Lisbon, Portugal.
Infect Genet Evol. 2023 Aug;112:105437. doi: 10.1016/j.meegid.2023.105437. Epub 2023 Apr 24.
Mycobacteroides abscessus complex (MAB), a fast-growing nontuberculous mycobacterium, is emerging as a significant infectious disease threat, due to both intrinsic and acquired resistance mechanisms to antibiotics and disinfectants and the need for extensive and multidrug regimens for treatment. Despite the prolonged regimens, outcomes are poor and persistence cases have been reported. Here, we describe clinical, microbiologic and genomic features of a M. abscessus subsp. bolletii (M. bolletii) strain consecutively isolated from a patient within an eight-year infection period. From April 2014 to September 2021, the National Reference Laboratory for Mycobacteria received eight strains isolated from a male patient. Species identification, molecular resistance profile and phenotypic drug susceptibility were determined. Five of these isolates were recovered for further in-depth genomic analysis. Genomic analysis confirmed the multidrug resistant pattern of the strain and also other genetic changes associated with adaptation to environment and defence mechanisms. We highlight the identification of new mutations in locus MAB_1881c and in locus MAB_4099c (mps1 gene), already described as associated with macrolides resistance and morphotype switching, respectively. Additionally, we also observed the emergence and fixation of a mutation in locus MAB_0364c that appeared at a frequency of 36% for the 2014 isolate, 57% for the 2015 isolate and 100% for the 2017 and 2021 isolates, clearly illustrating a fixation process underlying a microevolution of the MAB strain within the patient. Altogether these results suggest that the observed genetic alterations are a reflection of the bacterial population's continuous adaptation and survival to the host environment during infection, contributing to persistence and treatment failure.
脓肿分枝杆菌复合体(MAB)是一种快速生长的非结核分枝杆菌,由于其对抗生素和消毒剂具有内在和获得性耐药机制,以及治疗需要广泛和多药治疗方案,因此它正成为一种重要的传染病威胁。尽管治疗方案延长,但结果仍不佳,并且已经报道了持续存在的病例。在这里,我们描述了一名患者在 8 年感染期间连续分离出的脓肿分枝杆菌亚种 bolletii(M. bolletii)菌株的临床、微生物学和基因组特征。从 2014 年 4 月至 2021 年 9 月,国家分枝杆菌参考实验室收到了从一名男性患者中分离出的 8 株菌株。对这些菌株进行了种属鉴定、分子耐药谱和表型药敏试验。其中 5 株被回收进行进一步的深入基因组分析。基因组分析证实了该菌株的多药耐药模式,以及与适应环境和防御机制相关的其他遗传变化。我们强调了在 MAB_1881c 基因座和 MAB_4099c 基因座(mps1 基因)中发现新突变的情况,这两个基因座已经被描述为与大环内酯类耐药性和形态转换相关。此外,我们还观察到 MAB_0364c 基因座出现的一个突变的出现和固定,该突变在 2014 年分离株中出现频率为 36%,2015 年分离株为 57%,2017 年和 2021 年分离株为 100%,这清楚地说明了在患者体内 MAB 菌株的微进化过程中存在固定过程。总之,这些结果表明,观察到的遗传改变反映了细菌种群在感染过程中对宿主环境的连续适应和存活,导致持续存在和治疗失败。