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Mitochondrial disease heterogeneity: a prognostic challenge
Mitochondrial diseases are a heterogeneous group of progressive, genetically transmitted, multisystem disorders caused by impaired mitochondrial function. The disease course for individuals with mitochondrial myopathies varies greatly from patient to patient because disease progression largely depen...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pacini Editore SpA
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299169/ https://www.ncbi.nlm.nih.gov/pubmed/25709378 |
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author | Moggio, Maurizio Colombo, Irene Peverelli, Lorenzo Villa, Luisa Xhani, Rubjona Testolin, Silvia Di Mauro, Salvatore Sciacco, Monica |
author_facet | Moggio, Maurizio Colombo, Irene Peverelli, Lorenzo Villa, Luisa Xhani, Rubjona Testolin, Silvia Di Mauro, Salvatore Sciacco, Monica |
author_sort | Moggio, Maurizio |
collection | PubMed |
description | Mitochondrial diseases are a heterogeneous group of progressive, genetically transmitted, multisystem disorders caused by impaired mitochondrial function. The disease course for individuals with mitochondrial myopathies varies greatly from patient to patient because disease progression largely depends on the type of disease and on the degree of involvement of various organs which makes the prognosis unpredictable both within the same family and among families with the same mutation. This is particularly, but not exclusively, true for mitochondrial disorders caused by mtDNA point mutations, which are maternally inherited and subject to the randomness of the heteroplasmy. For this reason, the prognosis cannot be given by single mitochondrial disease, but should be formulated by any single mitochondrial disease-related event or complication keeping in mind that early recognition and treatment of symptoms are crucial for the prognosis. The following approach can help prevent severe organ dysfunctions or at least allow early diagnosis and treatment of disease-related complications. |
format | Online Article Text |
id | pubmed-4299169 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Pacini Editore SpA |
record_format | MEDLINE/PubMed |
spelling | pubmed-42991692015-02-23 Mitochondrial disease heterogeneity: a prognostic challenge Moggio, Maurizio Colombo, Irene Peverelli, Lorenzo Villa, Luisa Xhani, Rubjona Testolin, Silvia Di Mauro, Salvatore Sciacco, Monica Acta Myol Original Articles Mitochondrial diseases are a heterogeneous group of progressive, genetically transmitted, multisystem disorders caused by impaired mitochondrial function. The disease course for individuals with mitochondrial myopathies varies greatly from patient to patient because disease progression largely depends on the type of disease and on the degree of involvement of various organs which makes the prognosis unpredictable both within the same family and among families with the same mutation. This is particularly, but not exclusively, true for mitochondrial disorders caused by mtDNA point mutations, which are maternally inherited and subject to the randomness of the heteroplasmy. For this reason, the prognosis cannot be given by single mitochondrial disease, but should be formulated by any single mitochondrial disease-related event or complication keeping in mind that early recognition and treatment of symptoms are crucial for the prognosis. The following approach can help prevent severe organ dysfunctions or at least allow early diagnosis and treatment of disease-related complications. Pacini Editore SpA 2014-10 /pmc/articles/PMC4299169/ /pubmed/25709378 Text en The journal and the individual contributions contained in it are protected by the copyright of Gaetano Conte Academy, Naples, Italy http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License, which permits for noncommercial use, distribution, and reproduction in any digital medium, provided the original work is properly cited and is not altered in any way. For details, please refer to http://creativecommons.org/licenses/by-nc-nd/3.0/ |
spellingShingle | Original Articles Moggio, Maurizio Colombo, Irene Peverelli, Lorenzo Villa, Luisa Xhani, Rubjona Testolin, Silvia Di Mauro, Salvatore Sciacco, Monica Mitochondrial disease heterogeneity: a prognostic challenge |
title | Mitochondrial disease heterogeneity:
a prognostic challenge |
title_full | Mitochondrial disease heterogeneity:
a prognostic challenge |
title_fullStr | Mitochondrial disease heterogeneity:
a prognostic challenge |
title_full_unstemmed | Mitochondrial disease heterogeneity:
a prognostic challenge |
title_short | Mitochondrial disease heterogeneity:
a prognostic challenge |
title_sort | mitochondrial disease heterogeneity:
a prognostic challenge |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299169/ https://www.ncbi.nlm.nih.gov/pubmed/25709378 |
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