Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder

作者：Bertolin Cinzia; Magri Chiara; Barlati Sergio; Vettori Andrea; Perini Giulia Ida; Peruzzi Pio; Mostacciuolo Maria Luisa; Vazza Giovanni^*

来源：Journal of Human Genetics, 2011, 56(12): 869-872.

DOI：10.1038/jhg.2011.111

• bipolar disorder
• mtDNA variants
• schizophrenia

The present study aims at investigating the association between common and rare variants of mitochondrial DNA (mtDNA), and increased risk of schizophrenia (SZ) and bipolar disorder (BPD) in a cohort of patients originating from the same Italian population. The distribution of the major European mtDNA haplogroups was determined in 89 patients and their frequencies did not significantly differ from those observed in the Italian population. Moreover, 27 patients with high probability of having inherited the disease from the maternal side were selected for whole mitochondrial genome sequencing to investigate the possible presence of causative point mutations. Overall, 213 known variants and 2 novel changes were identified, but none of them was predicted to have functional effects. Hence, none of the sequence changes we found in our sample could explain the maternal component of SZ and BPD predisposition. Journal of Human Genetics (2011) 56, 869-872; doi:10.1038/jhg.2011.111; published online 13 October 2011

• 出版日期2011-12