Mueller Edith E, Eder Waltraud, Mayr Johannes A, Paulweber Bernhard, Sperl Wolfgang, Horninger Wolfgang, Klocker Helmut, Kofler Barbara
Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
PLoS One. 2009 Jul 28;4(7):e6370. doi: 10.1371/journal.pone.0006370.
Besides being responsible for energy production in the cell, mitochondria are central players in apoptosis as well as the main source of harmful reactive oxygen species. Therefore, it can be hypothesised that sequence variation in the mitochondrial genome is a contributing factor to the etiology of diseases related to these different cellular events, including cancer. The aim of the present study was to assess the frequency of haplogroups and polymorphisms in the control region (CR) of mitochondrial DNA of peripheral blood mononuclear cells from patients with prostate carcinoma (n = 304) versus patients screened for prostate disease but found to be negative for cancer on biopsy (n = 278) in a Middle European population.
METHODOLOGY/PRINCIPAL FINDINGS: The nine major European haplogroups and the CR polymorphisms were identified by means of primer extension analysis and DNA sequencing, respectively. We found that mitochondrial haplogroup frequencies and CR polymorphisms do not differ significantly between patients with or without prostate cancer, implying no impact of inherited mitochondrial DNA variation on predisposition to prostate carcinoma in a Middle European population.
CONCLUSIONS/SIGNIFICANCE: Our results contrast with a recent report claiming an association between mtDNA haplogroup U and prostate cancer in a North American population of caucasian descent.
线粒体除了负责细胞内的能量产生外，还是细胞凋亡的核心参与者以及有害活性氧的主要来源。因此，可以推测线粒体基因组中的序列变异是与这些不同细胞事件（包括癌症）相关疾病病因的一个促成因素。本研究的目的是评估中欧人群中前列腺癌患者（n = 304）与经前列腺疾病筛查但活检发现癌症阴性的患者（n = 278）外周血单个核细胞线粒体DNA控制区（CR）单倍群和多态性的频率。
方法/主要发现：分别通过引物延伸分析和DNA测序鉴定了九个主要的欧洲单倍群和CR多态性。我们发现，患前列腺癌和未患前列腺癌的患者之间线粒体单倍群频率和CR多态性没有显著差异，这意味着在中欧人群中，遗传的线粒体DNA变异对前列腺癌易感性没有影响。
结论/意义：我们的结果与最近一份声称北美白种人后裔人群中线粒体单倍群U与前列腺癌之间存在关联的报告形成对比。
