| Literature DB >> 21993419 |
Cinzia Bertolin1, Chiara Magri, Sergio Barlati, Andrea Vettori, Giulia Ida Perini, Pio Peruzzi, Maria Luisa Mostacciuolo, Giovanni Vazza.
Abstract
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.Entities:
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Year: 2011 PMID: 21993419 DOI: 10.1038/jhg.2011.111
Source DB: PubMed Journal: J Hum Genet ISSN: 1434-5161 Impact factor: 3.172