结直肠腺瘤性息肉原发组织中mtDNA突变的频率。
Frequencies of mtDNA mutations in primary tissues of colorectal adenopolyps.
作者信息
Adams Gregory, Mehrabi Sharifeh, Vatcharapijarn Yupha, Iyamu Osatohamwen I, Akwe Joyce A, Grizzle William E, Yao Xuebiao, Aikhionbare Felix O
机构信息
Department of Medicine, Morehouse School of Medicine, Atlanta, GA 30310, USA.
出版信息
Front Biosci (Elite Ed). 2013 Jun 1;5(3):809-13. doi: 10.2741/E661.
To investigate the potential role of mtDNA alterations during the onset of colorectal cancer, the occurrence of mtDNA variants in colorectal adenomatous (Tubular, Tubulovillous, and Villous) polyps, were studied. High resolution endonucleases and PCR-based sequence were applied to examine mtDNA variants in the ND and ATPase genes of 64 primary tissues of colorectal adeno-polyps and their matched normal controls. Forty-two variants were observed and 57% (24/42) were not previously reported in the MITODAT reference. Fifty-eight percent of these variants were germline and homoplasmic transitions. The distribution of observed mtDNA variants includes: 31% (13/42) tubular, 52% (22/42) tubulovillous, 45% (19/42) villous, and 45% (19/42) cancer (including FAP and JVP). Notably, an unreported germline variant in the ATPase 8 gene at nucleotide position (np) G8573A was observed in tubulovillous adenomas tissues. The results suggest that some specific mtDNA variants may serve as a potential biomarker for colorectal adenomatous polyps.
为了研究线粒体DNA（mtDNA）改变在结直肠癌发病过程中的潜在作用，我们对结直肠腺瘤性（管状、管绒毛状和绒毛状）息肉中mtDNA变异的发生情况进行了研究。应用高分辨率核酸内切酶和基于聚合酶链反应（PCR）的测序技术，检测了64例结直肠腺瘤性息肉原发组织及其配对正常对照组织中线粒体呼吸链复合物Ⅰ（ND）和ATP合酶（ATPase）基因的mtDNA变异。共观察到42个变异，其中57%（24/42）在MITODAT参考数据库中未曾报道。这些变异中58%为种系和同质性转换。观察到的mtDNA变异分布情况如下：管状息肉中占31%（13/42），管绒毛状息肉中占52%（22/42），绒毛状息肉中占45%（19/42），癌组织（包括家族性腺瘤性息肉病和少年息肉病）中占45%（19/42）。值得注意的是，在管绒毛状腺瘤组织中观察到ATPase 8基因第8573位核苷酸（np）处有一个未报道的种系变异G8573A。结果表明，某些特定的mtDNA变异可能作为结直肠腺瘤性息肉的潜在生物标志物。
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