bioRxiv Science⌕ Search

bioRxiv · 10.1101/2023.05.17.541083

Diagnostic Accuracy of FluoroCycler XT MTBDR Assay for Detection of Rifampicin and Isoniazid Resistant Mycobacteria tuberculosis in Clinical Isolates from Kenya

Abstract

BackgroundDrug-resistant TB (DR-TB) poses a major global challenge to public health and therapeutics. It is an emerging global concern associated with increased morbidity and mortality mostly seen in the low- and middle-income countries. Lack of adequate diagnostic equipment for detection and monitoring of DR-TB leads to delayed diagnosis and subsequent inappropriate treatment. TB drug resistance testing has relied on phenotypic presentations in drug sensitivity testing (DST). The cost of setting up a TB phenotypic testing facility is prohibitive for most healthcare facilities due to its intensive investment in infrastructure, equipment, laboratory consumables, and personnel. Molecular techniques are highly sensitive and offer timely and accurate results for TB drug resistance testing, thereby positively influencing patient management plan. The commonly used assay for detection of rifampicin (RIF) and isoniazid (INH) resistance in Mycobacterium tuberculosis (M.tb) is GenoType MTBDRplus. Although the GenoType MTBDRplus is more inexpensive and accurate than DST, when compared to other molecular techniques, it requires more specialized expertise, more hands-on time, substantial laboratory infrastructure and result interpretation is subjective to user. The FluoroCycler(R) MTBDR is a real-time polymerase chain reaction assay that detects M.tb and at the same time identifies mutations in rpoB, katG and inhA genes that are associated with RIF and INH resistance. It can detect up to 45 mutations in these genes in a single tube, producing results within 2.5 hours and this ability is only comparable to sequencing. MethodsThe study was carried out at the National Tuberculosis Reference Laboratory (NTRL) in Kenya in the period between January to October 2022. A total of 243 M.tb clinical isolates were included in the study. These isolates comprised of 50 isolates with mutations in rpoB, 51 isolates with katG mutations, 51 isolates with mutations in inhA. and 91 M.tb isolates lacking mutations in these genes based on Genotype MTBDRplus results. DNA from the isolates was extracted using the FluoroLyse extraction kit. Real-time PCR targeting the rpoB, InhA, and katG genes was performed using the FluoroType MTBDR amplification mix. Isolates with discordant results between Genotype MTBDRplus and FluoroCycler(R) MTBDR assays underwent targeted sequencing for the respective genes, then sequences were analyzed for mutations using Geneious version 11.0 software. ResultsThe sensitivity of the Fluorocycler XT MTBDR assay for detection of mutations that confer drug resistance was 86% (95% CI 73.0,94.0) for rpoB, 96% (95% CI 87, 100) for katG and 92% (95% CI 81, 98) for inhA. The assays specificity was 97% (95% CI 93, 99) for rpoB, 98% (95% CI 96, 100) for katG and 97% (95% CI 93, 99) for inhA. Discrepancy between Genotype MTBDRplus and FluoroType MTBDR results were observed in 28 (11.5%) isolates with rpoB, katG and inhA genes having 26% (13/50), 10% (5/50), and 20% (10/50) isolates with discrepant results respectively. Sequencing results that were in agreement with FluoroType MTBDR results were 77% (10/13) for rpoB, 80% (4/5) for katG, and 70% (7/10) for inhA compared to 23% (3/13), 20% (1/5), and 30% (3/10) for Genotype MTBDRplus assay ConclusionThe diagnostic accuracy of FluoroType MTBDR for the detection of mutations conferring resistance to RIF and INH was high compared with that of Genotype MTBDRplus, and demonstrates its suitability as a replacement assay for Genotype MTBDRplus.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Maingi, Z. M., Ireri, S., Opwaka, H., Otieno, L., Simam, J., Onyambu, F. G., Mukiri, N.. 2023-05-17. Diagnostic Accuracy of FluoroCycler XT MTBDR Assay for Detection of Rifampicin and Isoniazid Resistant Mycobacteria tuberculosis in Clinical Isolates from Kenya. https://doi.org/10.1101/2023.05.17.541083

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related preprints

Dietary selenium deficiency drives sex-specific circadian disturbance through redox imbalance and causes early systolic dysfunction in mice

Background: Selenium is a vital trace element involved in antioxidant defence and cardiovascular health. Although selenium deficiency is implicated in cardiomyopathies, its early cardiac effects and underlying mechanisms remain poorly defined. Methods: C57BL6/Njr mice were fed either a selenium deficient or control diet for 12 weeks. Systemic selenium status, cardiac function by echocardiography, left ventricular (LV) transcriptomic profiles, redox balance, and circadian pathway markers were assessed, including sex-specific analyses. Results: Selenium deficiency reduced plasma selenium levels without inducing overt cardiac hypertrophy or fibrosis. Echocardiography showed preserved ejection fraction and fractional shortening but reduced global longitudinal strain, indicating early systolic dysfunction. Cardiac stress markers were increased predominantly in male mice. Left ventricular RNA sequencing revealed enrichment of pathways related to cardiac remodelling, redox regulation, mitochondrial function, and circadian rhythm. Additional protein and metabolic analyses supported sex-specific redox circadian alterations, with males showing a more pronounced stress response profile. Conclusions: Dietary selenium deficiency induces early myocardial dysfunction and molecular remodelling before overt cardiac failure. These changes are associated with redox and circadian pathway disruption and show sex specific features, suggesting that selenium contributes to cardiac homeostasis through sex dependent redox circadian regulation.

molecular biology↗

Dysregulation of FMR1 Splicing in Human Fragile X Syndrome

Fragile X Syndrome (FXS) is a neuro-developmental disorder caused by a CGG expansion in FMR1, leading to transcriptional silencing and loss of the encoded protein FMRP. Surprisingly, ~70% of FXS individuals express FMR1, but the RNA is mis-spliced to isoform FMR1-217, composed of exon 1 spliced to a pseudo-exon in intron 1 and cannot produce FMRP. Splice-switching ASOs rescue proper FMR1 splicing and restore FMRP. FMR1-217 mis-splicing increases with CGG repeat length and is negatively correlated with patient IQ. FMR1-217 is associated with ribosome footprints, indicating it is translated into a polypeptide that may impair cognition. R-loops form at the FMR1 locus and extend into the pseudo-exon, but splice-switching ASOs reduce FMR1-217 and elevate FMRP independently of R-loop formation. DRB-based transcription analysis identified impaired Pol II elongation at the 5 prime region of FMR1 in FXS cells, indicated by accumulation of hypophosphorylated Pol II at the transcription start site. Consistent with this, camptothecin-induced Pol II stalling increased FMR1-217 pseudo-exon inclusion. The splicing factors PTBP1 and PTBP2 regulate FMR1-217 splicing in a differentiation stage-dependent manner. Together, these findings indicate that FMR1-217 mis-splicing in FXS is associated with CGG repeat expansion, R-loop formation, impaired co-transcriptional Pol II elongation and context-dependent regulation by PTBP1/PTBP2.

molecular biology↗

Hidden Biodiversity in Wildlife Trade Networks: DNA Barcoding Reveals Fish and Crocodilian Species in Commercialized Swim Bladders

International wildlife trade represents one of the major drivers of biodiversity exploitation worldwide. However, the true taxonomic diversity embedded within commercial wildlife products often remains unknown because processing removes diagnostic morphological characteristics, preventing reliable species identification. Consequently, biodiversity assessments based solely on product labels may substantially underestimate the diversity of species involved in trade networks. To investigate hidden biodiversity within wildlife trade products, we applied DNA barcoding based on the mitochondrial cytochrome c oxidase subunit I (COI) gene to 77 products commercialized as fish swim bladders and seized at Guarulhos International Airport, Brazil. Molecular analyses successfully identified all samples and revealed the presence of four species: Plagioscion auratus (n = 38), Cynoscion acoupa (n = 7), Melanosuchus niger (n = 17), and Caiman crocodilus (n = 15). Fish species accounted for 71.4% of all samples, whereas crocodilians represented 28.6%, demonstrating that products marketed under a single commercial category may conceal substantial taxonomic diversity. Notably, the occurrence of two Amazonian crocodilian species within a trade chain traditionally associated with fish products reveals a previously undocumented component of the international wildlife trade. Our findings demonstrate that DNA barcoding is an effective tool for uncovering hidden biodiversity within processed wildlife products and provide evidence that wildlife trade networks may involve a broader spectrum of species than suggested by commercial labels. These results highlight the importance of molecular surveillance for biodiversity monitoring, wildlife trade regulation, and conservation planning.

molecular biology↗