Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency.


Journal

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

Informations de publication

Date de publication:
27 10 2020
Historique:
received: 20 07 2020
accepted: 25 09 2020
entrez: 28 10 2020
pubmed: 29 10 2020
medline: 27 2 2021
Statut: epublish

Résumé

Creatine Transporter Deficiency (CTD) is an inborn error of metabolism presenting with intellectual disability, behavioral disturbances and epilepsy. There is currently no cure for this disorder. Here, we employed novel biomarkers for monitoring brain function, together with well-established behavioral readouts for CTD mice, to longitudinally study the therapeutic efficacy of cyclocreatine (cCr) at the preclinical level. Our results show that cCr treatment is able to partially correct hemodynamic responses and EEG abnormalities, improve cognitive deficits, revert autistic-like behaviors and protect against seizures. This study provides encouraging data to support the potential therapeutic benefit of cyclocreatine or other chemically modified lipophilic analogs of Cr.

Identifiants

pubmed: 33110151
doi: 10.1038/s41598-020-75436-4
pii: 10.1038/s41598-020-75436-4
pmc: PMC7591530
doi:

Substances chimiques

Plasma Membrane Neurotransmitter Transport Proteins 0
cyclocreatine 6732XGX1RK
Creatinine AYI8EX34EU
Creatine MU72812GK0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

18361

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Auteurs

Francesco Cacciante (F)

Institute of Neuroscience, National Research Council (CNR), Via Moruzzi 1, 56124, Pisa, Italy.
BIO@SNS Lab, Scuola Normale Superiore di Pisa, 56125, Pisa, Italy.

Mariangela Gennaro (M)

Institute of Neuroscience, National Research Council (CNR), Via Moruzzi 1, 56124, Pisa, Italy.

Giulia Sagona (G)

Department of Neuroscience, Psychology, Drug Research and Child Health NEUROFARBA, University of Florence, 50135, Florence, Italy.
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128, Pisa, Italy.

Raffaele Mazziotti (R)

Institute of Neuroscience, National Research Council (CNR), Via Moruzzi 1, 56124, Pisa, Italy.

Leonardo Lupori (L)

BIO@SNS Lab, Scuola Normale Superiore di Pisa, 56125, Pisa, Italy.

Elisa Cerri (E)

Institute of Neuroscience, National Research Council (CNR), Via Moruzzi 1, 56124, Pisa, Italy.

Elena Putignano (E)

Institute of Neuroscience, National Research Council (CNR), Via Moruzzi 1, 56124, Pisa, Italy.

Mark Butt (M)

Tox Path Specialists, Frederick, MD, 21701, USA.

Minh-Ha T Do (MT)

Lumos Pharma, Austin, TX, 78756, USA.

John C McKew (JC)

Lumos Pharma, Austin, TX, 78756, USA.

Maria Grazia Alessandrì (MG)

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128, Pisa, Italy.

Roberta Battini (R)

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128, Pisa, Italy.
Department of Clinical and Experimental Medicine, University of Pisa, 56126, Pisa, Italy.

Giovanni Cioni (G)

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128, Pisa, Italy.
Department of Clinical and Experimental Medicine, University of Pisa, 56126, Pisa, Italy.

Tommaso Pizzorusso (T)

Institute of Neuroscience, National Research Council (CNR), Via Moruzzi 1, 56124, Pisa, Italy.
Department of Neuroscience, Psychology, Drug Research and Child Health NEUROFARBA, University of Florence, 50135, Florence, Italy.

Laura Baroncelli (L)

Institute of Neuroscience, National Research Council (CNR), Via Moruzzi 1, 56124, Pisa, Italy. baroncelli@in.cnr.it.
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128, Pisa, Italy. baroncelli@in.cnr.it.

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Classifications MeSH