2016年3月2日讯 /生物谷BIOON/ –许多研究证明肥胖的流行,缺乏锻炼以及食用加工食品是促进结肠癌发生的重要原因。还有研究发现APC基因上的一个突变与这种致命疾病的发生有关。但究竟谁先谁后?结肠癌是不是现代社会的致命产物?还是DNA发生错误的简单后果?
以色列特拉维夫大学的一项最新发现表明对结直肠癌的基因易感性要早于现代社会出现,最为有趣的就是他们在18世纪的匈牙利木乃伊中找到了证据。
相关研究结果发表在国际学术期刊Plos One上。
1995年匈牙利挖掘出超过265具古代尸体,大约70%完全或者部分木乃伊化。其中保存的组织样本以及大量档案信息吸引了全世界的研究人员,所有人都对这些木乃伊的形态和遗传感兴趣。
研究人员表示,结直肠癌是现代社会中一种常见的健康威胁,也有研究表明该类疾病的发生有一定遗传背景,那么过去的人是否也携带APC基因突变?这种基因突变出现的频率如何?过去出现的APC基因突变是否与现在发现的突变相同?换句话说:结直肠癌发生率增加是人类自作孽还是自然导致的结果?
在这项研究中,研究人员通过基因测序对这些木乃伊进行了分析,发现APC基因上也携带了基因突变。研究结果表明其中一具木乃伊携带了一个致癌突变,这表明对癌症的基因易感性在现代社会之前就已经存在,但是他们也仅在一具木乃伊上发现了该基因突变,未来应当扩大样本量进行进一步研究,这样才能得出有意义的结论。(基因宝jiyinbao.com)
DOI: 10.1371/journal.pone.0147217
Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy
Michal Feldman ,Israel Hershkovitz,Ella H. Sklan,Gila Kahila Bar-Gal,Ildikó Pap,Ildikó Szikossy,Rina Rosin-Arbesfeld
Mutations of the Adenomatous polyposis coli (APC) gene are common and strongly associated with the development of colorectal adenomas and carcinomas. While extensively studied in modern populations, reports on visceral tumors in ancient populations are scarce. To the best of our knowledge, genetic characterization of mutations associated with colorectal cancer in ancient specimens has not yet been described. In this study we have sequenced hotspots for mutations in the APC gene isolated from 18th century naturally preserved human Hungarian mummies. While wild type APC sequences were found in two mummies, we discovered the E1317Q missense mutation, known to be a colorectal cancer predisposing mutation, in a large intestine tissue of an 18th century mummy. Our data suggests that this genetic predisposition to cancer already existed in the pre-industrialization era. This study calls for similar investigations of ancient specimens from different periods and geographical locations to be conducted and shared for the purpose of obtaining a larger scale analysis that will shed light on past cancer epidemiology and on cancer evolution.