Ambrus Julian L, Jacob Alexander, Shukla Abhay A
Department of Medicine, SUNY at Buffalo School of Medicine, 875 Ellicott Street, Buffalo, NY 14203, USA.
Immco Diagnostics of Trinity Biotech, Amherst, NY 14228, USA.
Int J Mol Sci. 2025 May 13;26(10):4668. doi: 10.3390/ijms26104668.
Metabolism disorders have been seen in multiple autoimmune diseases, including SLE and Sjogren's disease. The current studies were designed to evaluate mutations in genes involved in metabolism in a cohort of patients with Sjogren's disease, diagnosed from clinical criteria and the presence of antibodies to salivary gland antigens. Patients were from an Immunology clinic that follows a large population of patients with autoimmune and metabolic disorders. The patients included in these studies were patients who met the criteria for Sjogren's disease and for whom we were able to obtain genetic studies, sequencing of the mitochondrial DNA, and whole exome sequencing. There were 194 of these patients, and 192 had mutations in one or more gene involved in metabolism: 188 patients had mutations in mitochondrial respiratory chain genes, 17 patients had mutations in mitochondrial tRNA genes, 10 patients had mutations in mitochondrial DLOOP regions, 6 patients had mutations involved in carnitine transport, 6 patients had mutations in genes causing mitochondrial depletion, and 7 patients had glycogen storage diseases. In all cases, the treatment of the metabolic disorder led to symptomatic improvement in energy, exercise tolerance, gastrointestinal dysmotility, and the management of infections. In conclusion, metabolic disorders are common in patients with Sjogren's disease and may be one of the factors leading to the initiation of the disease. The treatment of patients with Sjogren's disease should include the treatment of the underlying/associated metabolic disorder.
代谢紊乱在多种自身免疫性疾病中都有出现，包括系统性红斑狼疮和干燥综合征。当前的研究旨在评估一组符合临床标准且存在唾液腺抗原抗体的干燥综合征患者中参与代谢的基因突变情况。患者来自一家免疫诊所，该诊所跟踪了大量患有自身免疫性和代谢性疾病的患者。纳入这些研究的患者是符合干燥综合征标准且我们能够对其进行基因研究、线粒体DNA测序和全外显子组测序的患者。这些患者中有194例，其中192例在一个或多个参与代谢的基因中存在突变：188例患者在线粒体呼吸链基因中有突变，17例患者在线粒体tRNA基因中有突变，10例患者在线粒体D环区域有突变，6例患者在参与肉碱转运的基因中有突变，6例患者在导致线粒体耗竭的基因中有突变，7例患者患有糖原贮积病。在所有病例中，对代谢紊乱的治疗都使能量、运动耐量、胃肠动力和感染管理方面的症状得到改善。总之，代谢紊乱在干燥综合征患者中很常见，可能是导致该疾病发病的因素之一。干燥综合征患者的治疗应包括对潜在/相关代谢紊乱的治疗。
