在瘤和体液中轻松检测线粒体DNA突变
M S Fliss1, H Usadel, O L Caballero
1Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Science (New York, N.Y.)
|March 17, 2000
概括
癌细胞经常表现出线粒体DNA (mtDNA) 突变. 这些突变mtDNA分子在体液中丰富,这表明潜在的非侵入性癌症检测.
科学领域:
- 在瘤学瘤学.
- 分子生物学分子生物学
- 遗传学 是一个遗传学.
背景情况:
- 线粒体DNA (mtDNA) 突变与包括癌症在内的各种疾病有关.
- 在初级瘤中体质mtDNA突变的作用和丰度尚未完全理解.
- 在临床实践中,非侵入性地检测癌症仍然是一个重大挑战.
研究的目的:
- 为了研究人体膀,头和部以及肺的原发性瘤中的体质mtDNA突变的频率和特征.
- 为了比较瘤样本和体液中突变mtDNA与突变核DNA的丰富程度.
- 评估mtDNA突变作为用于非侵入性癌症检测的生物标志物的潜力.
主要方法:
- 来自膀,头和肺癌患者的原发性瘤组织的分析.
- 在线粒体DNA (mtDNA) 中检测和量化体质突变.
- 将mtDNA突变水平与瘤组织和配对体液中的核p53DNA突变进行比较.
主要成果:
- 在膀,头和肺瘤的mtDNA中观察到高频率的体质突变.
- 大多数检测到的mtDNA突变是同质体突变,表明瘤细胞的主导地位.
- 突变的mtDNA在配对的体液中比突变的核p53DNA多得多 (19-220倍),从而促进检测.
结论:
- 人体mtDNA突变在各种人类癌症中很常见.
- 克隆性质和mtDNA的高拷贝数使得这些突变可以在体液中检测到.
- 突变mtDNA代表了癌症的非侵入性检测的有希望的分子标记.
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