Analysis of ATPase-6 mtDNA mutations and telomere length in patients with bipolar disorder

Abstract

Abstract This study's objective was to analyze ATPase-6 mtDNA mutations and telomere length in patients with bipolar disorder. 37 patients with bipolar disorder and 48 healthy individuals were included in this research. DNA samples of all patients and healthy individuals were isolated. To identify mtDNA mutations in patients, samples were first amplified by PCR, and then Sanger DNA sequencing was performed. RT-PCR method was used for relative telomere length analysis. T112A (m.8860A>G) mutation was detected in all patients (37/37). In addition, T53I (m.8684 C>T) mutations were detected in three patients (3/37) and L156L (m.8994 G>A) and S176N (m.9053 G>A) mutations in one patient each (1/37). Telomere lengths of patients with bipolar disorder were shorter than healthy individuals (p=0.0046). ROC analyses showed that telomere length has a significant diagnostic value for bipolar patients with 94.6% sensitivity and 45.8% specificity (AUC:0.678, 95% CI: 0.568-0.776, p=0.002). There were not statistically significant differences in telomere lengths according to mutation type (p>0.05). Also, there was no relation difference between ATPase-6 mtDNA mutations and telomere length and clinical demographic data (p>0.05). In conclusion, it was shown that patients with bipolar disorder have shorter telomere lengths than healthy individuals. Telomere length may be used as a diagnostic factor. Furthermore, the high frequency of ATPase-6 mtDNA mutations may be part of the genetic background of bipolar disorder. It would be beneficial to support studies with more extensive patient populations to confirm the results we found.