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

Omar Hikmat*, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Christian Samsonsen, Eylert Brodtkorb, Elsebet Ostergaard, Rene de Coo, Leticia Pias-Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darin, Shamima Rahman, Laurence A. Bindoff

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Web of Science)

Abstract

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.

Original languageEnglish
Pages (from-to)2019-2025
Number of pages7
JournalAnnals of Clinical and Translational Neurology
Volume7
Issue number10
Early online date18 Sep 2020
DOIs
Publication statusPublished - Oct 2020

Keywords

  • DNA-POLYMERASE-GAMMA
  • STROKE-LIKE EPISODES
  • LACTIC-ACIDOSIS
  • MITOCHONDRIAL
  • MUTATIONS
  • ENCEPHALOPATHY
  • EPILEPSY
  • NEUROSTEROIDS
  • MODULATORS
  • DISORDERS

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