Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

Details

Serval ID
serval:BIB_0DE163527E7F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
Journal
European Journal of Medical Genetics
Author(s)
Tumienė B., Voisin N., Preikšaitienė E., Petroška D., Grikinienė J., Samaitienė R., Utkus A., Reymond A., Kučinskas V.
ISSN
1878-0849 (Electronic)
ISSN-L
1769-7212
Publication state
Published
Issued date
2017
Peer-reviewed
Oui
Volume
60
Number
3
Pages
154-158
Language
english
Abstract
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder belonging to the recently characterized group of type I interferonopathies. The most consistently affected tissues in AGS are the central nervous system and skin, but various organ systems and tissues have been reported to be affected, pointing to the systemic nature of the disease. Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene. The histologically proven inflammatory myopathy in our patient expands the range of clinical features of AGS. Histological signs of muscle biopsies in the proband, and in two other AGS patients described earlier, are similar to those seen in various autoimmune myositises and could be ascribed to inapproapriate IFN I activation. In view of signs of possible mitochondrial damage in AGS, we propose that mitochondrial DNA could be a trigger of autoimmune responses in AGS.

Keywords
Autoimmune Diseases of the Nervous System/genetics, Autoimmune Diseases of the Nervous System/pathology, Base Sequence, Child, DNA, Mitochondrial/genetics, Exodeoxyribonucleases/genetics, Female, Genetic Predisposition to Disease, Humans, Interferon Type I/immunology, Mitochondria/genetics, Mitochondria/pathology, Myositis/pathology, Nervous System Malformations/genetics, Nervous System Malformations/pathology, Phosphoproteins/genetics, Sequence Analysis, DNA
Pubmed
Web of science
Create date
24/01/2017 19:27
Last modification date
20/08/2019 13:34
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