Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

Autor: Tumienė B; Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University, Vilnius, Lithuania. Electronic address: tumbir@gmail.com., Voisin N; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Preikšaitienė E; Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University, Vilnius, Lithuania., Petroška D; Department of Pathology, Forensic Medicine and Pharmacology, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; National Centre of Pathology, Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania., Grikinienė J; Clinic of Children's Diseases, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Samaitienė R; Clinic of Children's Diseases, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Utkus A; Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University, Vilnius, Lithuania., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Kučinskas V; Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University, Vilnius, Lithuania.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2017 Mar; Vol. 60 (3), pp. 154-158. Date of Electronic Publication: 2017 Jan 09.
DOI: 10.1016/j.ejmg.2016.12.004
Abstrakt: 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.
(Copyright © 2017 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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