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Choroid plexus failure in the Kearns-Sayre syndrome

The Kearns-Sayre syndrome is a mitochondrial disorder (generally due to mitochondrial DNA deletions) that causes ophthalmoplegia, retinopathy, ataxia and brain abnormalities such as leukoencephalopathy. In this syndrome, the choroid plexus epithelial cells, unlike brain cells, are greatly enlarged a...

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Detalles Bibliográficos
Autores principales: Spector, Reynold, Johanson, Conrad E
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2939631/
https://www.ncbi.nlm.nih.gov/pubmed/20731822
http://dx.doi.org/10.1186/1743-8454-7-14
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author Spector, Reynold
Johanson, Conrad E
author_facet Spector, Reynold
Johanson, Conrad E
author_sort Spector, Reynold
collection PubMed
description The Kearns-Sayre syndrome is a mitochondrial disorder (generally due to mitochondrial DNA deletions) that causes ophthalmoplegia, retinopathy, ataxia and brain abnormalities such as leukoencephalopathy. In this syndrome, the choroid plexus epithelial cells, unlike brain cells, are greatly enlarged and granular, consistent with their inability to adequately transport folate from blood into cerebrospinal fluid (CSF), and homovanillic acid (a dopamine metabolite) from CSF into blood. This inability to transport folates from blood into CSF (and brain) adequately, causes cerebral folate deficiency that can be partially reversed by very high doses of reduced folates. The Kearns-Sayre syndrome is a disease that interferes with key choroid plexus functions and is a cause of generalized choroid plexus failure.
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spelling pubmed-29396312010-09-16 Choroid plexus failure in the Kearns-Sayre syndrome Spector, Reynold Johanson, Conrad E Cerebrospinal Fluid Res Commentary The Kearns-Sayre syndrome is a mitochondrial disorder (generally due to mitochondrial DNA deletions) that causes ophthalmoplegia, retinopathy, ataxia and brain abnormalities such as leukoencephalopathy. In this syndrome, the choroid plexus epithelial cells, unlike brain cells, are greatly enlarged and granular, consistent with their inability to adequately transport folate from blood into cerebrospinal fluid (CSF), and homovanillic acid (a dopamine metabolite) from CSF into blood. This inability to transport folates from blood into CSF (and brain) adequately, causes cerebral folate deficiency that can be partially reversed by very high doses of reduced folates. The Kearns-Sayre syndrome is a disease that interferes with key choroid plexus functions and is a cause of generalized choroid plexus failure. BioMed Central 2010-08-23 /pmc/articles/PMC2939631/ /pubmed/20731822 http://dx.doi.org/10.1186/1743-8454-7-14 Text en Copyright ©2010 Spector and Johanson; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Commentary
Spector, Reynold
Johanson, Conrad E
Choroid plexus failure in the Kearns-Sayre syndrome
title Choroid plexus failure in the Kearns-Sayre syndrome
title_full Choroid plexus failure in the Kearns-Sayre syndrome
title_fullStr Choroid plexus failure in the Kearns-Sayre syndrome
title_full_unstemmed Choroid plexus failure in the Kearns-Sayre syndrome
title_short Choroid plexus failure in the Kearns-Sayre syndrome
title_sort choroid plexus failure in the kearns-sayre syndrome
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2939631/
https://www.ncbi.nlm.nih.gov/pubmed/20731822
http://dx.doi.org/10.1186/1743-8454-7-14
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