Inflammatory myopathy in a patient with Aicardi-Goutières syndrome

• Published in: European journal of medical genetics Vol. 60; no. 3; pp. 154 - 158
• Main Authors: Tumienė, Birutė, Voisin, Norine, Preikšaitienė, Eglė, Petroška, Donatas, Grikinienė, Jurgita, Samaitienė, Rūta, Utkus, Algirdas, Reymond, Alexandre, Kučinskas, Vaidutis
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01-03-2017
• Subjects: Aicardi-Goutières syndrome; Autoimmune Diseases of the Nervous System - genetics; Autoimmune Diseases of the Nervous System - pathology; Autoimmune myositis; Base Sequence; Child; DNA, Mitochondrial - genetics; Exodeoxyribonucleases - genetics; Exome sequencing; Female; Genetic Predisposition to Disease; Humans; Inflammatory myopathy; Interferon Type I - immunology; Medical Education; Mitochondria - genetics; Mitochondria - pathology; Myositis - pathology; Nervous System Malformations - genetics; Nervous System Malformations - pathology; Phosphoproteins - genetics; Sequence Analysis, DNA; Type I interferonopathy; Type I interferonopathy; Inflammatory myopathy; Autoimmune myositis; Aicardi-Goutières syndrome; Exome sequencing
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2016.12.004

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.