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Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts
Huntington disease (HD) is an inherited neurodegenerative disorder caused by mutations in the huntingtin gene. Involvement of mitochondrial dysfunctions in, and especially influence of the level of mitochondrial DNA (mtDNA) on, development of this disease is unclear. Here, samples of blood from 84 H...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5504138/ https://www.ncbi.nlm.nih.gov/pubmed/28508341 http://dx.doi.org/10.1007/s11011-017-0026-0 |
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author | Jędrak, Paulina Krygier, Magdalena Tońska, Katarzyna Drozd, Małgorzata Kaliszewska, Magdalena Bartnik, Ewa Sołtan, Witold Sitek, Emilia J. Stanisławska-Sachadyn, Anna Limon, Janusz Sławek, Jarosław Węgrzyn, Grzegorz Barańska, Sylwia |
author_facet | Jędrak, Paulina Krygier, Magdalena Tońska, Katarzyna Drozd, Małgorzata Kaliszewska, Magdalena Bartnik, Ewa Sołtan, Witold Sitek, Emilia J. Stanisławska-Sachadyn, Anna Limon, Janusz Sławek, Jarosław Węgrzyn, Grzegorz Barańska, Sylwia |
author_sort | Jędrak, Paulina |
collection | PubMed |
description | Huntington disease (HD) is an inherited neurodegenerative disorder caused by mutations in the huntingtin gene. Involvement of mitochondrial dysfunctions in, and especially influence of the level of mitochondrial DNA (mtDNA) on, development of this disease is unclear. Here, samples of blood from 84 HD patients and 79 controls, and dermal fibroblasts from 10 HD patients and 9 controls were analysed for mtDNA levels. Although the type of mitochondrial haplogroup had no influence on the mtDNA level, and there was no correlation between mtDNA level in leukocytes in HD patients and various parameters of HD severity, some considerable differences between HD patients and controls were identified. The average mtDNA/nDNA relative copy number was significantly higher in leukocytes, but lower in fibroblasts, of symptomatic HD patients relative to the control group. Moreover, HD women displayed higher mtDNA levels in leukocytes than HD men. Because this is the largest population analysed to date, these results might contribute to explanation of discrepancies between previously published studies concerning levels of mtDNA in cells of HD patients. We suggest that the size of the investigated population and type of cells from which DNA is isolated could significantly affect results of mtDNA copy number estimation in HD. Hence, these parameters should be taken into consideration in studies on mtDNA in HD, and perhaps also in other diseases where mitochondrial dysfunction occurs. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11011-017-0026-0) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-5504138 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Springer US |
record_format | MEDLINE/PubMed |
spelling | pubmed-55041382017-07-25 Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts Jędrak, Paulina Krygier, Magdalena Tońska, Katarzyna Drozd, Małgorzata Kaliszewska, Magdalena Bartnik, Ewa Sołtan, Witold Sitek, Emilia J. Stanisławska-Sachadyn, Anna Limon, Janusz Sławek, Jarosław Węgrzyn, Grzegorz Barańska, Sylwia Metab Brain Dis Original Article Huntington disease (HD) is an inherited neurodegenerative disorder caused by mutations in the huntingtin gene. Involvement of mitochondrial dysfunctions in, and especially influence of the level of mitochondrial DNA (mtDNA) on, development of this disease is unclear. Here, samples of blood from 84 HD patients and 79 controls, and dermal fibroblasts from 10 HD patients and 9 controls were analysed for mtDNA levels. Although the type of mitochondrial haplogroup had no influence on the mtDNA level, and there was no correlation between mtDNA level in leukocytes in HD patients and various parameters of HD severity, some considerable differences between HD patients and controls were identified. The average mtDNA/nDNA relative copy number was significantly higher in leukocytes, but lower in fibroblasts, of symptomatic HD patients relative to the control group. Moreover, HD women displayed higher mtDNA levels in leukocytes than HD men. Because this is the largest population analysed to date, these results might contribute to explanation of discrepancies between previously published studies concerning levels of mtDNA in cells of HD patients. We suggest that the size of the investigated population and type of cells from which DNA is isolated could significantly affect results of mtDNA copy number estimation in HD. Hence, these parameters should be taken into consideration in studies on mtDNA in HD, and perhaps also in other diseases where mitochondrial dysfunction occurs. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11011-017-0026-0) contains supplementary material, which is available to authorized users. Springer US 2017-05-16 2017 /pmc/articles/PMC5504138/ /pubmed/28508341 http://dx.doi.org/10.1007/s11011-017-0026-0 Text en © The Author(s) 2017 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
spellingShingle | Original Article Jędrak, Paulina Krygier, Magdalena Tońska, Katarzyna Drozd, Małgorzata Kaliszewska, Magdalena Bartnik, Ewa Sołtan, Witold Sitek, Emilia J. Stanisławska-Sachadyn, Anna Limon, Janusz Sławek, Jarosław Węgrzyn, Grzegorz Barańska, Sylwia Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts |
title | Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts |
title_full | Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts |
title_fullStr | Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts |
title_full_unstemmed | Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts |
title_short | Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts |
title_sort | mitochondrial dna levels in huntington disease leukocytes and dermal fibroblasts |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5504138/ https://www.ncbi.nlm.nih.gov/pubmed/28508341 http://dx.doi.org/10.1007/s11011-017-0026-0 |
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