Study of mtDNA polymorphism in type 2 diabetes patients
S. V. Buikin1, M. V. Golubenko1, K. V. Puzyrev2, O. A. Makeeva1, I. V. Tsimbaluk3, O. A. Koshelskaja2, V. P. Puzyrev1;
1Research Institute of Medical Genetics, Tomsk, Russian Federation, 2Research Institute of Cardiology, Tomsk, Russian Federation, 3Siberian State Medical University, Tomsk, Russian Federation.
Presentation Number: P06.298
Diabetes is among frequent endocrine diseases. Endocrine system is one of energy-dependent systems in human organism. Phylogenetic mtDNA haplogroups possess different common polymorphisms and can mark effects of these variants on predisposition to common diseases. Samples of 119 type 2 diabetes patients (78 women, 41 men) and 134 healthy people were studied (all living in Tomsk region). Mean age in the groups was 52+5.5 and 47.6+10.2 years, respectively. Ultrasound examination, 24-hours monitoring of blood pressure and fasting glucose measure were performed. Comparison of frequencies of some of Europeans haplogroups (H, U, T, J) has uncovered lower frequency of haplogroup T in type 2 diabetes patientsas compared to control group (OR=0.14; 0.02OR0.66; p=0.007). In the group of type 2 diabetes patients this haplogroup was detected only in two cases, whereas in control it corresponds to known frequencies for European population (11.6%). Our previous study which was conducted on patients with arterial hypertension has shown higher prevalence of haplogroup T in group of patients with left ventricular hypertrophy against patients without this complication. These alternative effects of mitochondrial haplogroup T may reflect different adaptive advantages for an individual carrying the haplogroup, in respect to different conditions. The findings suggest that particular mtDNA haplogroup (i.e. set of haplogroup-specific polymorphisms in mtDNA) may have some impact on energy metabolism and may be predisposing or protective factor for some diseases and their complications.
Another nail in the coffin-lid of ‘mt DNA as a neutral DNA marker’.