MİTOKONDRİYAL HASTALIK NEDENİYLE TETKİK EDİLEN HASTALARDA M.16189T>C DEĞİŞİKLİĞİNİN METABOLİK SENDROM AÇISINDAN İNCELENMESİ

Year 2022, , 322 - 325, 18.07.2022

Aslı İnci , Filiz Başak Cengiz Ergin , İlyas Okur , Gürsel Biberoğlu Leyla Tümer Fatih Süheyl Ezgü

https://doi.org/10.18229/kocatepetip.928450

Abstract

AMAÇ: Metabolik sendrom, obezite, yüksek düzeyde düşük yoğunluklu kolesterol düzeyi (LDL), trigliserit düzeyi (TG) ve insuline duyarlılık ile karakterize olan günümüzde sıklığı giderek artan bir bozukluktur. Metabolik sendromun etiyopatogenezinde hem genetik hem de çevresel nedenlerin rol oynadığı bilinmektedir. Özellikle mitokondriyal DNA’da oluşan m.16189T>C değişikliğinin bu hastalıkla ilişkili olduğu gösterilmiştir. Bu çalışmada mitokondriyal hastalık şüphesi ile başvuran hastalarda saptanan m.16189T>C değişikliğinin klinik ve laboratuvar bulgularının incelenmesi amaçlanmıştır.
GEREÇ VE YÖNTEM: Kliniğimize 2019 - 2020 yılları arasında mitokondriyal hastalık şüphesi ile gelen hastalardan m.16189T>C değişikliği olan hastalar çalışmaya alınmıştır. Hastaların klinik ve laboratuvar bulguları mitokondriyal hastalık şüphesi taşıması nedeniyle periferik kandan mitokondriyal DNA izolasyonu yapılmıştır. Yeni nesil DNA dizileme ile tüm mitokondriyal genom DNA dizi analizi yapılarak m.16189T>C değişikliği olan hastalar saptanarak çalışmaya dahil edilmiştir. Bu hastaların klinik ve laboratuvar bulguları metabolik sendrom açısından incelenmiştir.
BULGULAR: 1 yıllık süre içinde 55 hastanın 11’inde mitokondriyal genom analizinde m.16189T>C değişikliği saptanmıştır (%20). Fizik muayene bulgularında, hiçbir hastada fazla tartı ve obezite saptanmamıştır. Hastaların glukoz, LDL ve trigliserit düzeyleri normal aralıkta bulunmuştur.
SONUÇ: Hasta grubumuzda oldukça yüksek oranda saptanan bu değişikliğin metabolik sendrom ile ilişkisi gösterilememiş ve polimorfizm olarak değerlendirilmiştir. Ancak mitokondriyal hastalık şüphesi ile gelen bu hastaların kullandığı ilaçların, beslenme şekillerinin ve hastalığın patofizyolojisinin bu metabolik sendromu etkileyen çevresel faktörler olabileceği ön görülebilir.

Keywords

Metabolik sendrom, Mitokondriyal hastalık, Mitokondriyal genom analizi, M.16189T>C.

Supporting Institution

Yoktur

Project Number

Yoktur

Thanks

Tüm çalışma arkadaşlarımıza, hastalarıma ve ailelerine teşekkür ederiz

INVESTIGATION OF M.16189T> C VARIANT IN TERMS OF METABOLIC SYNDROME IN PATIENTS EXAMINED FOR MITOCHONDRIAL DISEASE

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.

Keywords

Metabolic syndrome, Mitochondrial disease, Mitochondrial genome analysis, M.16189T>C .

Project Number

Yoktur

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