Department of Biology, University of Padova, Padova, Italy.
J Hum Genet. 2011 Dec;56(12):869-72. doi: 10.1038/jhg.2011.111. Epub 2011 Oct 13.
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.
本研究旨在调查线粒体 DNA(mtDNA)常见和罕见变异与精神分裂症(SZ)和双相情感障碍(BPD)风险增加之间的关联,该队列的患者均来自同一意大利人群。在 89 名患者中确定了主要的欧洲线粒体 haplogroup 分布,其频率与在意大利人群中观察到的频率没有显著差异。此外,选择了 27 名极有可能从母系遗传疾病的患者进行全线粒体基因组测序,以调查可能存在的致病点突变。总的来说,确定了 213 个已知变体和 2 个新变化,但均未预测具有功能影响。因此,我们在样本中发现的序列变化均不能解释 SZ 和 BPD 易感性的母系成分。