Abstract:

OBJECTIVE: Metabolic syndrome is an increasingly common disorder, characterized by obesity, high low-density cholesterol level (LDL), triglyceride level (TG), and insulin sensitivity. It is known that both genetic and environmental factors play a role in the etiopathogenesis of metabolic syndrome. It has shown that the m.16189T>C variant that occurs mainly in mitochondrial DNA is associated with this disease. In this study, it was aimed to examine the clinical and laboratory findings of m.16189T>C change detected in patients who applied with suspected mitochondrial disease. MATERIAL AND METHODS: Patients with a change in m.16189T>C among the patients who came to our clinic with the suspicion of mitochondrial disease between 2019-2020 were included in the study. Mitochondrial DNA was isolated from peripheral blood because the clinical and laboratory findings of the patients were suspicious of mitochondrial disease. New generation DNA sequencing and whole mitochondrial genome DNA sequence analysis were performed and patients with m.16189T>C changes were determined and included in the study. Clinical and laboratory findings of these patients were examined in terms of metabolic syndrome. RESULTS: M.16189T>C variant was found in mitochondrial genome analysis in 11 of 55 patients (20%). In the physical examination findings, excessive weight and obesity were not detected in any of the patients. The glucose, LDL, and triglyceride levels of the patients were within the normal range. CONCLUSIONS: This change, which was detected at a high rate in our patient group, could not be associated with metabolic syndrome and was evaluated as a polymorphism. However, it can be predicted that the drugs used by these patients who had a suspicion of mitochondrial disease, their diet, and the pathophysiology of the disease may be the environmental factors affecting the metabolic syndrome.

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