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

Autor:	Karin Naess, Shamima Rahman, Elsebet Ostergaard, Martin Engvall, Johanna Uusimaa, Claus Klingenberg, Laurence A. Bindoff, Niklas Darin, Chantal M. E. Tallaksen, Leticia Pias-Peleteiro, René I. de Coo, Christian Samsonsen, Magnhild Rasmussen, Eylert Brodtkorb, Omar Hikmat, Pirjo Isohanni
Přispěvatelé:	HUS Children and Adolescents, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Clinicum, Children's Hospital, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Lastenneurologian yksikkö, RS: MHeNs - R3 - Neuroscience, Klinische Genetica
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	0301 basic medicine Mitochondrial Diseases Physiology Disease DNA-POLYMERASE-GAMMA MITOCHONDRIAL 3124 Neurology and psychiatry Epilepsy 0302 clinical medicine Pregnancy NEUROSTEROIDS LACTIC-ACIDOSIS EPILEPSY Research Articles General Neuroscience ENCEPHALOPATHY VDP::Medical disciplines: 700::Basic medical dental and veterinary science disciplines: 710 3. Good health DNA Polymerase gamma Europe Menarche Female medicine.symptom RC321-571 Research Article DISORDERS Encephalopathy Neurosciences. Biological psychiatry. Neuropsychiatry Status epilepticus 03 medical and health sciences medicine Humans RC346-429 Retrospective Studies business.industry MUTATIONS Puberty STROKE-LIKE EPISODES 3112 Neurosciences Retrospective cohort study VDP::Medisinske Fag: 700::Basale medisinske odontologiske og veterinærmedisinske fag: 710 medicine.disease 030104 developmental biology MODULATORS Neurology (clinical) Neurology. Diseases of the nervous system business 030217 neurology & neurosurgery
Zdroj:	Annals of Clinical and Translational Neurology Annals of Clinical and Translational Neurology, 7(10), 2019-2025. Wiley r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname 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 & Bindoff, L A 2020, ' The impact of gender, puberty, and pregnancy in patients with POLG disease ', Annals of Clinical and Translational Neurology, vol. 7, no. 10, pp. 2019-2025 . https://doi.org/10.1002/acn3.51199 r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2019-2025 (2020) Annals of clinical and translational neurology
ISSN:	2328-9503
Popis:	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. © 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.
Databáze:	OpenAIRE
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