University of Oulu

Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C.M.E., Samsonsen, C., Brodtkorb, E., Ostergaard, E., de Coo, R., Pias‐Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S. and Bindoff, L.A. (2020), The impact of gender, puberty, and pregnancy in patients with POLG disease. Ann Clin Transl Neurol, 7: 2019-2025.

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

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Author: Hikmat, Omar1,2; Naess, Karin3,4; Engvall, Martin3,5;
Organizations: 1Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen, 5021 Norway
2Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway
3Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
4Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden
5Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden
6Department of Paediatric and Adolescent Medicine, University Hospital of North Norway, Tromso, Norway
7Paediatric Research Group, Department of Clinical Medicine, UiT‐ The Arctic University of Norway, Tromso, Norway
8Women and Children's Division, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway
9Unit for Congenital and Hereditary Neuromuscular Disorders, Department of Neurology, Oslo University Hospital, Oslo, Norway
10Department of Neurology, Oslo University Hospital, Oslo, Norway
11Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway
12Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway
13Department of Neurology and Clinical Neurophysiology, St. Olav's University Hospital, Trondheim, Norway
14Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
15Department of Neurology, Medical Spectrum Twente, Enschede, The Netherlands
16Department of Genetics and Cell Biology, University of Maastricht, Maastricht, The Netherlands
17Department of Neurology, Sant Joan de Déu Children´s Hospital, Barcelona, Spain
18Department of Pediatric Neurology, Children's Hospital, Helsinki University Hospital, Helsinki, Finland
19Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland
20PEDEGO Research Unit, University of Oulu, Oulu, Finland
21Department of Pediatric Neurology, Clinic for Children and Adolescents, Medical Research Center, Oulu University Hospital, Oulu, Finland
22Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden
23Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, United Kingdom
24Metabolic Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom
25Department of Neurology, Haukeland University Hospital, Bergen, 5021 Norway
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.3 MB)
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Language: English
Published: John Wiley & Sons, 2020
Publish Date: 2021-01-29


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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Series: Annals of clinical and translational neurology
ISSN: 2328-9503
ISSN-E: 2328-9503
ISSN-L: 2328-9503
Volume: 7
Issue: 10
Pages: 2019 - 2025
DOI: 10.1002/acn3.51199
Type of Publication: A1 Journal article – refereed
Field of Science: 3124 Neurology and psychiatry
Funding: This work was supported by grants from the Western Norway Regional Health Authority (Helse‐Vest, grants no. 911944). P.I is supported by a grant from the special governmental subsidy for health sciences research of the Helsinki University Hospital. S.R. receives grant funding from the National Institute of Health Research Great Ormond Street Hospital Biomedical Research Centre.
Copyright information: © 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 Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.