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Biomolecules
Volume 13
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10.3390/biom13040606
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Article

Blood–Brain Barrier Integrity Is Perturbed in a Mecp2-Null Mouse Model of Rett Syndrome

by
Giuseppe Pepe
1,†,
Salvatore Fioriniello
2,†,
Federico Marracino
1,
Luca Capocci
1,
Vittorio Maglione
1,
Maurizio D’Esposito
1,2,§,
Alba Di Pardo
1,*,‡ and
Floriana Della Ragione
1,2,*,‡
1
IRCCS Neuromed, 86077 Pozzilli, Italy
2
Institute of Genetics and Biophysics ‘A. Buzzati-Traverso’, CNR, 80131 Naples, Italy
*
Authors to whom correspondence should be addressed.
†
These authors contributed equally to this work as first authors.
‡
These authors contributed equally to this work as corresponding and senior authors.
§
Deceased.
Biomolecules 2023, 13(4), 606; https://doi.org/10.3390/biom13040606
Submission received: 16 February 2023 / Revised: 22 March 2023 / Accepted: 24 March 2023 / Published: 28 March 2023
(This article belongs to the Special Issue Neurodevelopmental Disorders: Linking Genetics and Epigenetics to Disease-Related Pathways)
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Abstract

Rett syndrome (RTT, online MIM 312750) is a devastating neurodevelopmental disorder characterized by motor and cognitive disabilities. It is mainly caused by pathogenetic variants in the X-linked MECP2 gene, encoding an epigenetic factor crucial for brain functioning. Despite intensive studies, the RTT pathogenetic mechanism remains to be fully elucidated. Impaired vascular function has been previously reported in RTT mouse models; however, whether an altered brain vascular homeostasis and the subsequent blood–brain barrier (BBB) breakdown occur in RTT and contribute to the disease-related cognitive impairment is still unknown. Interestingly, in symptomatic Mecp2-null (Mecp2-/y, Mecp2tm1.1Bird) mice, we found enhanced BBB permeability associated with an aberrant expression of the tight junction proteins Ocln and Cldn-5 in different brain areas, in terms of both transcript and protein levels. Additionally, Mecp2-null mice showed an altered expression of different genes encoding factors with a role in the BBB structure and function, such as Cldn3, Cldn12, Mpdz, Jam2, and Aqp4. With this study, we provide the first evidence of impaired BBB integrity in RTT and highlight a potential new molecular hallmark of the disease that might open new perspectives for the setting-up of novel therapeutic strategies.
Keywords: Rett syndrome; blood–brain barrier; MeCP2; neurodevelopmental disorder; autism spectrum disorder Rett syndrome; blood–brain barrier; MeCP2; neurodevelopmental disorder; autism spectrum disorder
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MDPI and ACS Style

Pepe, G.; Fioriniello, S.; Marracino, F.; Capocci, L.; Maglione, V.; D’Esposito, M.; Di Pardo, A.; Della Ragione, F. Blood–Brain Barrier Integrity Is Perturbed in a Mecp2-Null Mouse Model of Rett Syndrome. Biomolecules 2023, 13, 606. https://doi.org/10.3390/biom13040606

AMA Style

Pepe G, Fioriniello S, Marracino F, Capocci L, Maglione V, D’Esposito M, Di Pardo A, Della Ragione F. Blood–Brain Barrier Integrity Is Perturbed in a Mecp2-Null Mouse Model of Rett Syndrome. Biomolecules. 2023; 13(4):606. https://doi.org/10.3390/biom13040606

Chicago/Turabian Style

Pepe, Giuseppe, Salvatore Fioriniello, Federico Marracino, Luca Capocci, Vittorio Maglione, Maurizio D’Esposito, Alba Di Pardo, and Floriana Della Ragione. 2023. "Blood–Brain Barrier Integrity Is Perturbed in a Mecp2-Null Mouse Model of Rett Syndrome" Biomolecules 13, no. 4: 606. https://doi.org/10.3390/biom13040606

APA Style

Pepe, G., Fioriniello, S., Marracino, F., Capocci, L., Maglione, V., D’Esposito, M., Di Pardo, A., & Della Ragione, F. (2023). Blood–Brain Barrier Integrity Is Perturbed in a Mecp2-Null Mouse Model of Rett Syndrome. Biomolecules, 13(4), 606. https://doi.org/10.3390/biom13040606

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