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The impact of gender, puberty, and pregnancy in patients with POLG disease

OBJECTIVE: To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. METHODS: Clinical, laboratory, and genetic data were collected retrospectively from 155 patients with genetically confirmed POLG disease recruited...

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Autores principales: Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Samsonsen, Christian, Brodtkorb, Eylert, Ostergaard, Elsebet, de Coo, Rene, Pias‐Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545595/
https://www.ncbi.nlm.nih.gov/pubmed/32949115
http://dx.doi.org/10.1002/acn3.51199
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author Hikmat, Omar
Naess, Karin
Engvall, Martin
Klingenberg, Claus
Rasmussen, Magnhild
Tallaksen, Chantal M. E.
Samsonsen, Christian
Brodtkorb, Eylert
Ostergaard, Elsebet
de Coo, Rene
Pias‐Peleteiro, Leticia
Isohanni, Pirjo
Uusimaa, Johanna
Darin, Niklas
Rahman, Shamima
Bindoff, Laurence A.
author_facet Hikmat, Omar
Naess, Karin
Engvall, Martin
Klingenberg, Claus
Rasmussen, Magnhild
Tallaksen, Chantal M. E.
Samsonsen, Christian
Brodtkorb, Eylert
Ostergaard, Elsebet
de Coo, Rene
Pias‐Peleteiro, Leticia
Isohanni, Pirjo
Uusimaa, Johanna
Darin, Niklas
Rahman, Shamima
Bindoff, Laurence A.
author_sort Hikmat, Omar
collection PubMed
description OBJECTIVE: To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. METHODS: Clinical, laboratory, and genetic data were collected retrospectively from 155 patients with genetically confirmed POLG disease recruited from seven European countries. We used the available data to study the impact of gender, puberty, and pregnancy on disease onset and deterioration. RESULTS: We found that disease onset early in life was common in both sexes but there was also a second peak in females around the time of puberty. Further, pregnancy had a negative impact with 10 of 14 women (71%) experiencing disease onset or deterioration during pregnancy. INTERPRETATION: Gender clearly influences the expression of POLG disease. While onset very early in life was common in both males and females, puberty in females appeared associated both with disease onset and increased disease activity. Further, both disease onset and deterioration, including seizure aggravation and status epilepticus, appeared to be associated with pregnancy. Thus, whereas disease activity appears maximal early in life with no subsequent peaks in males, both menarche and pregnancy appear associated with disease onset or worsening in females. This suggests that hormonal changes may be a modulating factor.
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spelling pubmed-75455952020-10-16 The impact of gender, puberty, and pregnancy in patients with POLG disease Hikmat, Omar Naess, Karin Engvall, Martin Klingenberg, Claus Rasmussen, Magnhild Tallaksen, Chantal M. E. Samsonsen, Christian Brodtkorb, Eylert Ostergaard, Elsebet de Coo, Rene Pias‐Peleteiro, Leticia Isohanni, Pirjo Uusimaa, Johanna Darin, Niklas Rahman, Shamima Bindoff, Laurence A. Ann Clin Transl Neurol Research Articles OBJECTIVE: To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. METHODS: Clinical, laboratory, and genetic data were collected retrospectively from 155 patients with genetically confirmed POLG disease recruited from seven European countries. We used the available data to study the impact of gender, puberty, and pregnancy on disease onset and deterioration. RESULTS: We found that disease onset early in life was common in both sexes but there was also a second peak in females around the time of puberty. Further, pregnancy had a negative impact with 10 of 14 women (71%) experiencing disease onset or deterioration during pregnancy. INTERPRETATION: Gender clearly influences the expression of POLG disease. While onset very early in life was common in both males and females, puberty in females appeared associated both with disease onset and increased disease activity. Further, both disease onset and deterioration, including seizure aggravation and status epilepticus, appeared to be associated with pregnancy. Thus, whereas disease activity appears maximal early in life with no subsequent peaks in males, both menarche and pregnancy appear associated with disease onset or worsening in females. This suggests that hormonal changes may be a modulating factor. John Wiley and Sons Inc. 2020-09-18 /pmc/articles/PMC7545595/ /pubmed/32949115 http://dx.doi.org/10.1002/acn3.51199 Text en © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Articles
Hikmat, Omar
Naess, Karin
Engvall, Martin
Klingenberg, Claus
Rasmussen, Magnhild
Tallaksen, Chantal M. E.
Samsonsen, Christian
Brodtkorb, Eylert
Ostergaard, Elsebet
de Coo, Rene
Pias‐Peleteiro, Leticia
Isohanni, Pirjo
Uusimaa, Johanna
Darin, Niklas
Rahman, Shamima
Bindoff, Laurence A.
The impact of gender, puberty, and pregnancy in patients with POLG disease
title The impact of gender, puberty, and pregnancy in patients with POLG disease
title_full The impact of gender, puberty, and pregnancy in patients with POLG disease
title_fullStr The impact of gender, puberty, and pregnancy in patients with POLG disease
title_full_unstemmed The impact of gender, puberty, and pregnancy in patients with POLG disease
title_short The impact of gender, puberty, and pregnancy in patients with POLG disease
title_sort impact of gender, puberty, and pregnancy in patients with polg disease
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545595/
https://www.ncbi.nlm.nih.gov/pubmed/32949115
http://dx.doi.org/10.1002/acn3.51199
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