Investigation of variation in D-loop region of Mitochondrial DNA in patients with Psychosis disorders

Mitochondrial dysfunctions affect tissues with high energetic demands such as skeletal muscle, cardiac muscle, and the central nervous system. A growing body of evidence suggests that there is mitochondrial dysfunction in schizophrenia and bipolar disorder. The D-loop of mitochondrial-DNA is a major control site for mtDNA expression. This region in different population is varied and contains essential transcription and replication elements and it could be used for detection of mother inheritance, and human evolution. The aim of present study was to analyses the D-loop region polymorphisms in patients with psychiatric disorders.We analyzed the mutations at D-loop on the mtDNA in patients with psychiatric disorders. In a case-control study, our research on 24 patients and 463 normal people (controls), that all of them from Iranian population (Fars and non-Fars). The PCR-sequencing method was used to detection of variation in HV1 and HV2 regions on D-loop area. From 51 observed polymorphisms in HV1 region; C16294T, C16292T and C16223T polymorphisms were significantly (P<0.05) associated with schizophrenia and bipolar disorder, and it may be a risk factor for psychiatric disorders in Iranian population. Moreover, our data revealed that there are not any associations between polymorphisms in HV2 region and psychiatric disorders; but there was a significant difference (P<0.05) in T204C between patient and Fars control group. The result suggests that polymorphisms in HV1 and HV2 in Iranian population can be a risk factor for psychiatric disorders such as schizophrenia and bipolar disorder.

Keywords:

D-loop , polymorphism , HV1 , HV2 , psychiatric disorders , Iranian