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

Camilla Pellegrini; Francesco Ravaioli; Sara De Fanti; Alessia Siliquini; Claudia Sala; Magali Jane Rochat; Virginia Pollarini; Barbara Polischi; Alberto Pietro Pasti; Margherita Grasso; Maria Rambaldi; Francesco Cardoni; Nicola Grotteschi; Filippo Caraci; Pietro Cortelli; Federica Provini; Raffaele Lodi; Luca Morandi; Piero Parchi; Gian Luca Pirazzoli; Luisa Sambati; Caterina Tonon; Maria Giulia Bacalini

doi:10.1002/alz.71815

MicrobiologyAlzheimer s & DementiaSep 1, 2026

Peer-reviewed journal article

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

Camilla Pellegrini iD, Francesco Ravaioli iD, Sara De Fanti iD, Alessia Siliquini, Claudia Sala iD, Magali Jane Rochat iD, Virginia Pollarini iD, Barbara Polischi iD, Alberto Pietro Pasti iD, Margherita Grasso iD, Maria Rambaldi, Francesco Cardoni iD, Nicola Grotteschi, Filippo Caraci iD, Pietro Cortelli iD, Federica Provini iD, Raffaele Lodi iD, Luca Morandi iD, Piero Parchi iD, Gian Luca Pirazzoli iD, Luisa Sambati iD, Caterina Tonon iD, Maria Giulia Bacalini iD

Abstract

Structured AbstractO_ST_ABSINTRODUCTIONC_ST_ABSAdults with Down syndrome (DS) have a higher risk of developing Alzheimers 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. METHODSFecal 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. RESULTSCompared 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. CONCLUSIONAdults with DS display AD-associated changes in GM partially resembling those previously reported in euploid AD patients

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