Alterations of gut microbiota in Down syndrome and their association with Alzheimer’s disease

作者：Camilla Pellegrini, F. Ravaioli, S. Fanti, Claudia Sala, M. Rochat, V. Pollarini, Polischi Barbara, A. Pasti, Margherita Grasso, M. Rambaldi, Francesco Cardoni, Nicola Grotteschi, Filippo Caraci, Pietro Cortelli, Federica Provini, Raffaele Lodi, Luca Morandi, P. Parchi, G. Pirazzoli, L. Sambati, Caterina Tonon, M. Bacalini · 发表于：bioRxiv · 年份：2026 · DOI：10.64898/2026.04.03.716276 · 研究领域：Biology

INTRODUCTION Adults with Down syndrome (DS) have a higher risk of developing Alzheimer’s disease (AD). As gut microbiota (GM) alterations have been reported in AD, we investigated their association with cognitive decline and plasma AD biomarkers in DS. METHODS Fecal and plasma samples were collected from 58 adults with DS (21-75 years) and 30 euploid controls (CTRL; 25-83 years). GM was profiled using 16S rRNA sequencing. Major Neurocognitive Disorder (NcD) was diagnosed according to DSM-5 criteria. Plasma levels of p-Tau181, NfL, and GFAP were measured using the Simoa platform. RESULTS Compared with CTRL, DS showed significant changes in UBA1819 and Intestinibacter genera, previously reported to be associated with mild cognitive impairment. Furthermore, DS with NcD were characterized by a reduced abundance of Roseburia genus, which was also negatively associated with plasma levels of AD biomarkers. CONCLUSION Adults with DS display AD-associated changes in GM partially resembling those previously reported in euploid AD patients