In recent years, the mitochondria/immune system interaction has been proposed, so that variants of mitochondrial genome and levels of heteroplasmy might deregulate important metabolic processes in fighting infections, such as leprosy. We sequenced the whole mitochondrial genome to investigate variants and heteroplasmy levels, considering patients with different clinical forms of leprosy and household contacts. After sequencing, a specific pipeline was used for preparation and bioinformatics analysis to select heteroplasmic variants. We found 116 variants in at least two of the subtypes of the case group (Borderline Tuberculoid, Borderline Lepromatous, Lepromatous), suggesting a possible clinical significance to these variants. Notably, 15 variants were exclusively found in these three clinical forms, of which five variants stand out for being missense (m.3791T > C in MT-ND1, m.5317C > A in MT-ND2, m.8545G > A in MT-ATP8, m.9044T > C in MT-ATP6 and m.15837T > C in MT-CYB). In addition, we found 26 variants shared only by leprosy poles, of which two are characterized as missense (m.4248T > C in MT-ND1 and m.8027G > A in MT-CO2). We found a significant number of variants and heteroplasmy levels in the leprosy patients from our cohort, as well as six genes that may influence leprosy susceptibility, suggesting for the first time that the mitogenome might be involved with the leprosy process, distinction of clinical forms and severity. Thus, future studies are needed to help understand the genetic consequences of these variants.

中文翻译：

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全线粒体基因组测序揭示线粒体异质性与麻风病严重程度之间的关系

近年来，人们提出了线粒体/免疫系统的相互作用，因此线粒体基因组的变异和异质性水平可能会解除对麻风病等感染的重要代谢过程的调节。我们对整个线粒体基因组进行了测序，以研究变异和异质性水平，考虑到不同临床形式的麻风病患者和家庭接触者。测序后，使用特定的流程进行制备和生物信息学分析，以选择异质变异体。我们在病例组的至少两种亚型（交界性结核、交界性肉瘤、肉瘤）中发现了 116 个变异，表明这些变异可能具有临床意义。值得注意的是，在这三种临床形式中专门发现了 15 个变异，其中 5 个变异明显是错义的（MT-ND1 中 m.3791T > C、MT-ND2 中 m.5317C > A、MT 中 m.8545G > A -ATP8，MT-ATP6 中的 m.9044T > C，MT-CYB 中的 m.15837T > C）。此外，我们还发现了 26 个仅由麻风极共有的变体，其中两个被定性为错义（MT-ND1 中的 m.4248T > C 和 MT-CO2 中的 m.8027G > A）。我们在我们的队列中的麻风患者中发现了大量的变异和异质性水平，以及可能影响麻风易感性的六个基因，这首次表明线粒体基因组可能与麻风病的过程、临床形式的区分和麻风病的发生有关。严重程度。因此，未来的研究需要帮助理解这些变异的遗传后果。