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Biometals in rare neurodegenerative disorders of childhood
Copper, iron, and zinc are just three of the main biometals critical for correct functioning of the central nervous system (CNS). They have diverse roles in many functional processes including but not limited to enzyme catalysis, protein stabilization, and energy production. The range of metal conce...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3607070/ https://www.ncbi.nlm.nih.gov/pubmed/23531702 http://dx.doi.org/10.3389/fnagi.2013.00014 |
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author | Parker, Sarah J. Koistinaho, Jari White, Anthony R. Kanninen, Katja M. |
author_facet | Parker, Sarah J. Koistinaho, Jari White, Anthony R. Kanninen, Katja M. |
author_sort | Parker, Sarah J. |
collection | PubMed |
description | Copper, iron, and zinc are just three of the main biometals critical for correct functioning of the central nervous system (CNS). They have diverse roles in many functional processes including but not limited to enzyme catalysis, protein stabilization, and energy production. The range of metal concentrations within the body is tightly regulated and when the balance is perturbed, debilitating effects ensue. Homeostasis of brain biometals is mainly controlled by various metal transporters and metal sequestering proteins. The biological roles of biometals are vastly reviewed in the literature with a large focus on the connection to neurological conditions associated with ageing. Biometals are also implicated in a variety of debilitating inherited childhood disorders, some of which arise soon following birth or as the child progresses into early adulthood. This review acts to highlight what we know about biometals in childhood neurological disorders such as Wilson's disease (WD), Menkes disease (MD), neuronal ceroid lipofuscinoses (NCLs), and neurodegeneration with brain iron accumulation (NBIA). Also discussed are some of the animal models available to determine the pathological mechanisms in these childhood disorders, which we hope will aid in our understanding of the role of biometals in disease and in attaining possible therapeutics in the future. |
format | Online Article Text |
id | pubmed-3607070 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-36070702013-03-25 Biometals in rare neurodegenerative disorders of childhood Parker, Sarah J. Koistinaho, Jari White, Anthony R. Kanninen, Katja M. Front Aging Neurosci Neuroscience Copper, iron, and zinc are just three of the main biometals critical for correct functioning of the central nervous system (CNS). They have diverse roles in many functional processes including but not limited to enzyme catalysis, protein stabilization, and energy production. The range of metal concentrations within the body is tightly regulated and when the balance is perturbed, debilitating effects ensue. Homeostasis of brain biometals is mainly controlled by various metal transporters and metal sequestering proteins. The biological roles of biometals are vastly reviewed in the literature with a large focus on the connection to neurological conditions associated with ageing. Biometals are also implicated in a variety of debilitating inherited childhood disorders, some of which arise soon following birth or as the child progresses into early adulthood. This review acts to highlight what we know about biometals in childhood neurological disorders such as Wilson's disease (WD), Menkes disease (MD), neuronal ceroid lipofuscinoses (NCLs), and neurodegeneration with brain iron accumulation (NBIA). Also discussed are some of the animal models available to determine the pathological mechanisms in these childhood disorders, which we hope will aid in our understanding of the role of biometals in disease and in attaining possible therapeutics in the future. Frontiers Media S.A. 2013-03-25 /pmc/articles/PMC3607070/ /pubmed/23531702 http://dx.doi.org/10.3389/fnagi.2013.00014 Text en Copyright © 2013 Parker, Koistinaho, White and Kanninen. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in other forums, provided the original authors and source are credited and subject to any copyright notices concerning any third-party graphics etc. |
spellingShingle | Neuroscience Parker, Sarah J. Koistinaho, Jari White, Anthony R. Kanninen, Katja M. Biometals in rare neurodegenerative disorders of childhood |
title | Biometals in rare neurodegenerative disorders of childhood |
title_full | Biometals in rare neurodegenerative disorders of childhood |
title_fullStr | Biometals in rare neurodegenerative disorders of childhood |
title_full_unstemmed | Biometals in rare neurodegenerative disorders of childhood |
title_short | Biometals in rare neurodegenerative disorders of childhood |
title_sort | biometals in rare neurodegenerative disorders of childhood |
topic | Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3607070/ https://www.ncbi.nlm.nih.gov/pubmed/23531702 http://dx.doi.org/10.3389/fnagi.2013.00014 |
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