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Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome

The mevalonate (MVA)/cholesterol pathway is crucial for central nervous system (CNS) development and function and consequently, any dysfunction of this fundamental metabolic pathway is likely to provoke pathologic changes in the brain. Mutations in genes directly involved in MVA/cholesterol metaboli...

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Autores principales: Segatto, Marco, Tonini, Claudia, Pfrieger, Frank W., Trezza, Viviana, Pallottini, Valentina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6651320/
https://www.ncbi.nlm.nih.gov/pubmed/31284522
http://dx.doi.org/10.3390/ijms20133317
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author Segatto, Marco
Tonini, Claudia
Pfrieger, Frank W.
Trezza, Viviana
Pallottini, Valentina
author_facet Segatto, Marco
Tonini, Claudia
Pfrieger, Frank W.
Trezza, Viviana
Pallottini, Valentina
author_sort Segatto, Marco
collection PubMed
description The mevalonate (MVA)/cholesterol pathway is crucial for central nervous system (CNS) development and function and consequently, any dysfunction of this fundamental metabolic pathway is likely to provoke pathologic changes in the brain. Mutations in genes directly involved in MVA/cholesterol metabolism cause a range of diseases, many of which present neurologic and psychiatric symptoms. This raises the question whether other diseases presenting similar symptoms are related albeit indirectly to the MVA/cholesterol pathway. Here, we summarized the current literature suggesting links between MVA/cholesterol dysregulation and specific diseases, namely autism spectrum disorder and Rett syndrome.
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spelling pubmed-66513202019-08-08 Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome Segatto, Marco Tonini, Claudia Pfrieger, Frank W. Trezza, Viviana Pallottini, Valentina Int J Mol Sci Review The mevalonate (MVA)/cholesterol pathway is crucial for central nervous system (CNS) development and function and consequently, any dysfunction of this fundamental metabolic pathway is likely to provoke pathologic changes in the brain. Mutations in genes directly involved in MVA/cholesterol metabolism cause a range of diseases, many of which present neurologic and psychiatric symptoms. This raises the question whether other diseases presenting similar symptoms are related albeit indirectly to the MVA/cholesterol pathway. Here, we summarized the current literature suggesting links between MVA/cholesterol dysregulation and specific diseases, namely autism spectrum disorder and Rett syndrome. MDPI 2019-07-05 /pmc/articles/PMC6651320/ /pubmed/31284522 http://dx.doi.org/10.3390/ijms20133317 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Segatto, Marco
Tonini, Claudia
Pfrieger, Frank W.
Trezza, Viviana
Pallottini, Valentina
Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome
title Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome
title_full Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome
title_fullStr Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome
title_full_unstemmed Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome
title_short Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome
title_sort loss of mevalonate/cholesterol homeostasis in the brain: a focus on autism spectrum disorder and rett syndrome
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6651320/
https://www.ncbi.nlm.nih.gov/pubmed/31284522
http://dx.doi.org/10.3390/ijms20133317
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