Gandasegui Javier, Grau-Pujol Berta, Novela Valdemiro, Muchisse Osvaldo, Cambra-Pellejà Maria, Cossa Anélsio, Jamine José Carlos, Sacoor Charfudin, Brienen Eric A T, Catala-Moll Francesc, van Lieshout Lisette, Martínez-Valladares María, Paredes Roger, Muñoz José, Doyle Stephen R
Wellcome Sanger Institute, Cambridgeshire, United Kingdom; Barcelona Institute for Global Health (ISGlobal), Hospital Clínic - University of Barcelona, Barcelona, Spain.
Barcelona Institute for Global Health (ISGlobal), Hospital Clínic - University of Barcelona, Barcelona, Spain; Manhiça Health Research Centre (CISM), Maputo, Mozambique; Mundo Sano Foundation, Buenos Aires, Argentina.
Int J Parasitol Drugs Drug Resist. 2024 Dec;26:100570. doi: 10.1016/j.ijpddr.2024.100570. Epub 2024 Nov 12.
Concerns about the emergence of benzimidazole resistance in soil-transmitted helminths (STH) infections, particularly against Trichuris trichiura, have arisen. Previous studies of veterinary nematodes have linked benzimidazole resistance to single-nucleotide polymorphisms (SNPs) at three specific codons in the beta-tubulin gene, but similar associations in STH have not been consistently observed. In this work, we screened the complete beta-tubulin gene previously linked to benzimidazole resistance in T. trichiura by deep-amplicon sequencing to identify genetic variants and associate levels of diversity with drug response to albendazole. We used 99 DNA samples extracted from T. trichiura pooled eggs, previously semi-purified from human stool samples collected in Manhiça district, Mozambique. We obtained a set of 39 amplicons of the complete gene by subjecting the pooled eggs to long-read PCR and subsequently sequencing them. Of those amplicons, 22 and 17 were obtained from stool samples collected before, and 21 days after albendazole treatment, respectively. We observed genetic variation across the whole gene sequence, in both exons and introns; however, none were associated with the previously proposed resistance-associated SNPs, and none were predicted to significantly affect protein function. No significant differences in genetic diversity were observed between pre- and post-treatment samples. Using publicly available genome-wide data, we also analysed a second beta-tubulin isotype in the T. trichiura genome. We focused on detecting the canonical SNPs and assessing for signatures of genetic selection around this second isotype gene. This analysis did not reveal evidence supporting this second isotype's role in anthelmintic resistance. Despite the limitations of our study, such as a small sample size, particularly paired pre- and post-treatment samples (n = 6), or a restricted geographical area, we found no evidence linking either of the two beta-tubulin genes to benzimidazole resistance in T. trichiura, suggesting that genetic markers of drug resistance likely exist outside the beta-tubulin genes.
人们已经开始关注土壤传播的蠕虫(STH)感染中苯并咪唑耐药性的出现,尤其是针对毛首鞭形线虫。先前对兽用线虫的研究已将苯并咪唑耐药性与β-微管蛋白基因中三个特定密码子的单核苷酸多态性(SNP)联系起来,但在STH中尚未始终观察到类似的关联。在这项研究中,我们通过深度扩增子测序筛选了先前与毛首鞭形线虫苯并咪唑耐药性相关的完整β-微管蛋白基因,以鉴定遗传变异,并将多样性水平与阿苯达唑的药物反应相关联。我们使用了从毛首鞭形线虫混合卵中提取的99份DNA样本,这些卵先前是从莫桑比克曼希卡地区收集的人类粪便样本中半纯化得到的。通过对混合卵进行长读长PCR并随后测序,我们获得了一组完整基因的39个扩增子。在这些扩增子中,分别从阿苯达唑治疗前和治疗后21天收集的粪便样本中获得了22个和17个。我们在整个基因序列中,包括外显子和内含子中,都观察到了遗传变异;然而,没有一个与先前提出的耐药相关SNP相关,也没有一个被预测会显著影响蛋白质功能。治疗前和治疗后样本之间未观察到遗传多样性的显著差异。利用公开的全基因组数据,我们还分析了毛首鞭形线虫基因组中的第二个β-微管蛋白亚型。我们专注于检测典型SNP,并评估围绕该第二个亚型基因的遗传选择特征。该分析未发现支持该第二个亚型在抗蠕虫耐药性中起作用的证据。尽管我们的研究存在局限性,例如样本量小,特别是配对的治疗前和治疗后样本(n = 6),或地理区域有限,但我们没有发现证据表明两个β-微管蛋白基因中的任何一个与毛首鞭形线虫的苯并咪唑耐药性有关,这表明耐药性的遗传标记可能存在于β-微管蛋白基因之外。