Gut microbiota profile in CDKL5 deficiency disorder patients.

CDKL5 deficiency disorder Gastrointestinal disturbances Gut microbiota Gut-brain-axis

Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
28 Mar 2024
Historique:
received: 01 12 2023
accepted: 13 03 2024
medline: 29 3 2024
pubmed: 29 3 2024
entrez: 29 3 2024
Statut: epublish

Résumé

CDKL5 deficiency disorder (CDD) is a neurodevelopmental condition characterized by global developmental delay, early-onset seizures, intellectual disability, visual and motor impairments. Unlike Rett Syndrome (RTT), CDD lacks a clear regression period. Patients with CDD frequently encounter gastrointestinal (GI) disturbances and exhibit signs of subclinical immune dysregulation. However, the underlying causes of these conditions remain elusive. Emerging studies indicate a potential connection between neurological disorders and gut microbiota, an area completely unexplored in CDD. We conducted a pioneering study, analyzing fecal microbiota composition in individuals with CDD (n = 17) and their healthy relatives (n = 17). Notably, differences in intestinal bacterial diversity and composition were identified in CDD patients. In particular, at genus level, CDD microbial communities were characterized by an increase in the relative abundance of Clostridium_AQ, Eggerthella, Streptococcus, and Erysipelatoclostridium, and by a decrease in Eubacterium, Dorea, Odoribacter, Intestinomonas, and Gemmiger, pointing toward a dysbiotic profile. We further investigated microbiota changes based on the severity of GI issues, seizure frequency, sleep disorders, food intake type, impairment in neuro-behavioral features and ambulation capacity. Enrichment in Lachnoclostridium and Enterobacteriaceae was observed in the microbiota of patients with more severe GI symptoms, while Clostridiaceae, Peptostreptococcaceae, Coriobacteriaceae, Erysipelotrichaceae, Christensenellaceae, and Ruminococcaceae were enriched in patients experiencing daily epileptic seizures. Our findings suggest a potential connection between CDD, microbiota and symptom severity. This study marks the first exploration of the gut-microbiota-brain axis in subjects with CDD. It adds to the growing body of research emphasizing the role of the gut microbiota in neurodevelopmental disorders and opens doors to potential interventions that target intestinal microbes with the aim of improving the lives of patients with CDD.

Identifiants

pubmed: 38548767
doi: 10.1038/s41598-024-56989-0
pii: 10.1038/s41598-024-56989-0
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

7376

Subventions

Organisme : Fondazione Telethon
ID : GSP21001
Organisme : Ministero dell'Università e della Ricerca
ID : PNRR YOUNG MSCA_0000081

Informations de copyright

© 2024. The Author(s).

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Auteurs

Elisa Borghi (E)

Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.

Ornella Xynomilakis (O)

Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.
Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
Dipartimento di Scienze Biomediche e Cliniche, Università Degli Studi di Milano, 20157, Milan, Italy.

Emerenziana Ottaviano (E)

Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.

Camilla Ceccarani (C)

Institute of Biomedical Technologies, National Research Council, Segrate, Milan, Italy.

Ilaria Viganò (I)

Epilepsy Center-Child Neuropsychiatric Unit, ASST Santi Paolo e Carlo, Milan, Italy.

Paola Tognini (P)

Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy. paola.tognini@santannapisa.it.
Health Science Interdisciplinary Center, Sant'Anna School of Advanced Studies, Pisa, Italy. paola.tognini@santannapisa.it.

Aglaia Vignoli (A)

Department of Health Sciences, Università Degli Studi di Milano, Milan, Italy.
Childhood and Adolescence Neurology and Psychiatry Unit, ASST GOM Niguarda, Milan, Italy.

Classifications MeSH