Metabolic Disorders in a Cohort of Patients with Sjogren’s Disease

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Abstract
Disorders of metabolism have been seen in multiple autoimmune diseases including SLE and Sjogren’s disease. The current studies were designed to evaluate mutations in genes involved with metabolism in a cohort of patients with Sjogren’s disease diagnosed from clinical criteria and the presence of antibodies to salivary gland antigens. Patients included in these studies met criteria for Sjogren’s disease and were able to get genetic studies. There were 194 of these patients and 192 had mutations in one or more gene involved with 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 with carnitine transport, 6 patients had mutations in genes causing mitochondrial depletion and 7 patients had glycogen storage diseases. In all cases, treatment of the metabolic disorder led to symptomatic improvement in energy, exercise tolerance, gastrointestinal dysmotility and 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. Treatment of patients with Sjogren’s disease should include treatment of the underlying / associated metabolic disorder.

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