1型强直性肌营养不良患者的肠道微生物群紊乱
Disturbance of the human gut microbiota in patients with Myotonic Dystrophy type 1.
作者信息
Mahdavi Manijeh, Prévost Karine, Balthazar Philippe, Hus Isabelle Fisette-Paul, Duchesne Élise, Dumont Nicolas, Gagné-Ouellet Valérie, Gagnon Cynthia, Laforest-Lapointe Isabelle, Massé Eric
机构信息
Department of Biochemistry and Functional Genomics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, QC J1E 4K8, Canada.
Department of Rehabilitation, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC J1E 4K8, Canada.
出版信息
Comput Struct Biotechnol J. 2024 May 9;23:2097-2108. doi: 10.1016/j.csbj.2024.05.009. eCollection 2024 Dec.
Myotonic dystrophy type 1 (DM1) is a rare autosomal dominant genetic disorder. Although DM1 is primarily characterized by progressive muscular weakness, it exhibits many multisystemic manifestations, such as cognitive deficits, cardiac conduction abnormalities, and cataracts, as well as endocrine and reproductive issues. Additionally, the gastrointestinal (GI) tract is frequently affected, encompassing the entire digestive tract. However, the underlying causes of these GI symptoms remain uncertain, whether it is biomechanical problems of the intestine, involvement of bacterial communities, or both. The primary objective of this study is to investigate the structural changes in the gut microbiome of DM1 patients. To achieve this purpose, 35 patients with DM1 were recruited from the DM-Scope registry of the neuromuscular clinic in the Saguenay-Lac-St-Jean region of the province of Québec, Canada. Stool samples from these 35 patients, including 15 paired samples with family members living with them as controls, were collected. Subsequently, these samples were sequenced by 16S MiSeq and were analyzed with DADA2 to generate taxonomic signatures. Our analysis revealed that the DM1 status correlated with changes in gut bacterial community. Notably, there were differences in the relative abundance of Bacteroidota, Euryarchaeota, Fusobacteriota, and Cyanobacteria Phyla compared to healthy controls. However, no significant shift in gut microbiome community structure was observed between DM1 phenotypes. These findings provide valuable insights into how the gut bacterial community, in conjunction with biomechanical factors, could potentially influence the gastrointestinal tract of DM1 patients.
1型强直性肌营养不良症(DM1)是一种罕见的常染色体显性遗传病。虽然DM1主要特征是进行性肌肉无力,但它有许多多系统表现,如认知缺陷、心脏传导异常、白内障以及内分泌和生殖问题。此外,胃肠道经常受到影响,涵盖整个消化道。然而,这些胃肠道症状的潜在原因仍不确定,无论是肠道的生物力学问题、细菌群落的参与,还是两者皆有。本研究的主要目的是调查DM1患者肠道微生物群的结构变化。为实现这一目的,从加拿大魁北克省萨格奈-拉克-圣让地区神经肌肉诊所的DM-Scope登记处招募了35名DM1患者。收集了这35名患者的粪便样本,包括15对与他们一起生活的家庭成员作为对照的配对样本。随后,这些样本通过16S MiSeq进行测序,并用DADA2进行分析以生成分类特征。我们的分析表明,DM1状态与肠道细菌群落的变化相关。值得注意的是,与健康对照相比,拟杆菌门、广古菌门、梭杆菌门和蓝细菌门的相对丰度存在差异。然而,在DM1表型之间未观察到肠道微生物群群落结构的显著变化。这些发现为肠道细菌群落如何与生物力学因素共同潜在影响DM1患者的胃肠道提供了有价值的见解。