Leprosy cases diagnosed by contacts examination in a hyperendemic capital city of northeastern Brazil

Soares, Aruse Maria Marques; Corrêa, Rita da Graça Carvalhal Frazão; Santos, Kézia Cristina Batista dos; Figueiredo, Ivan Abreu; Paiva, Maria de Fátima Lires; Aquino, Dorlene Maria Cardoso de

doi:10.1016/j.abd.2020.07.016

Cited by 9 publications

(5 citation statements)

References 6 publications

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“… 16 , 19 , 21 However, in endemic regions, some studies show that most cases are classified as paucibacillary. 20 , 28 The operational classification showed to be consistent data in SINAN, as it was absent in only 0.7% (n = 33) of the records. However, in the present study, indeterminate and tuberculoid clinical forms, which are included in the paucibacillary classification, represented 25.2% of the cases when combined, while the total number of cases classified as paucibacillary was only 21.0%.…”

Section: Discussionmentioning

confidence: 76%

“…However, it was observed that treatment changes can occur in all clinical forms of the disease. 28 , 29 Other possibilities are the inadequate transposition of information to SINAN and errors in filling out the data by the professionals who performed the diagnosis. SINAN also has limitations regarding the standardization of records, duplication of cases, and lack of information.…”

Section: Discussionmentioning

confidence: 99%

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Epidemiological characteristics of leprosy from 2000 to 2019 in a state with low endemicity in southern Brazil

Moraes

Eidt²,

Koehler

et al. 2023

Anais Brasileiros de Dermatologia

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Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 99%

Epidemiological characteristics of leprosy from 2000 to 2019 in a state with low endemicity in southern Brazil

Moraes

Eidt²,

Koehler

et al. 2023

Anais Brasileiros de Dermatologia

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“…Although leprosy is considered a relevant public health problem in multiple countries, it is still understudied and neglected, especially concerning mitochondrial genetic aspects and, particularly, in the northern region of Brazil 22 , 23 . The Brazilian population is highly mixed, with a genetic contribution from different ethnic groups, mainly European, Native American and African groups 24 , 25 .…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial variants of complex I genes associated with leprosy clinical subtypes

de Souza,

Silva,

de Araújo

et al. 2024

Sci Rep

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Leprosy is a chronic bacterial infection mainly caused by Mycobacterium leprae that primarily affects skin and peripheral nerves. Due to its ability to absorb carbon from the host cell, the bacillus became dependent on energy production, mainly through oxidative phosphorylation. In fact, variations in genes of Complex I of oxidative phosphorylation encoded by mtDNA have been associated with several diseases in humans, including bacterial infections, which are possible influencers in the host response to leprosy. Here, we investigated the presence of variants in the mtDNA genes encoding Complex I regarding leprosy, as well as the analysis of their pathogenicity in the studied cohort. We found an association of 74 mitochondrial variants with either of the polar forms, Pole T (Borderline Tuberculoid) or Pole L (Borderline Lepromatous and Lepromatous) of leprosy. Notably, six variants were exclusively found in both clinical poles of leprosy, including m.4158A>G and m.4248T>C in MT-ND1, m.13650C>A, m.13674T>C, m.12705C>T and m.13263A>G in MT-ND5, of which there are no previous reports in the global literature. Our observations reveal a substantial number of mutations among different groups of leprosy, highlighting a diverse range of consequences associated with mutations in genes across these groups. Furthermore, we suggest that the six specific variants exclusively identified in the case group could potentially play a crucial role in leprosy susceptibility and its clinical differentiation. These variants are believed to contribute to the instability and dysregulation of oxidative phosphorylation during the infection, further emphasizing their significance.

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“…Although leprosy is an important public health problem, it is still neglected and little studied, in particular the mechanisms by which the host mitogenome can in uence the pro le of susceptibility to the disease, particular in the northern region of Brazil [47].…”

Section: Discussionmentioning

confidence: 99%

Whole Mitogenome Sequencing Uncovers a Relation Between Mitochondrial Heteroplasmy and Leprosy Severity

de Souza,

Silva,

de Araújo

et al. 2023

Preprint

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Background In recent years, a 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. Results 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 stands 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). Conclusion We found a significant number of variants and heteroplasmy levels in the leprosy patients from our cohort, 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 this variants.

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Leprosy cases diagnosed by contacts examination in a hyperendemic capital city of northeastern Brazil

Cited by 9 publications

References 6 publications

Epidemiological characteristics of leprosy from 2000 to 2019 in a state with low endemicity in southern Brazil

Epidemiological characteristics of leprosy from 2000 to 2019 in a state with low endemicity in southern Brazil

Mitochondrial variants of complex I genes associated with leprosy clinical subtypes

Whole Mitogenome Sequencing Uncovers a Relation Between Mitochondrial Heteroplasmy and Leprosy Severity

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