Correlation analysis of polymorphisms in mtDNA 3243, 3316, 3394 point mutation with schizophrenia / 第二军医大学学报

ABSTRACT

Objective: To study the effects of mitochondrial DNA (mtDNA) point mutations 3243A/G, 3316G/A, and 3394T/C on the incidence of schizophrenia (SZ) in the Han nationality in Henan province. Methods A total of 250 unrelated patients and 292 normal controls without family history of schizophrenia were included in the present study, and their peripheral blood samples were subjected to examination by PCR, digestion with different restriction enzymes, agarose gel electrophoresis, and DNA sequencing to detect the mutations of mtDNA 3243, 3316, and 3394. Statistical analysis was performed by SPSS17. 0 statistic software. Results: mtDNA 3316 G/A mutation was found in 8 SZ patients and in 3 controls (P>0. 05). mtDNA 3394 mutation was found in 15 SZ patients and 4 controls, with significant difference between the two groups (P<0. 05). No mtDNA 3243 mutation was found in the two groups. Conclusion: The findings in the present study indicate that mutation of mtDNA 3394T/C may be related to SZ, and the mutation of mtDNA 3243A/G and 3316G/A may not be related to SZ.