人們總是談“癌”色變,，因為癌癥不僅是世界上難以攻克的疾病之一,，而且早期癌癥很難被檢測出來,。從本質(zhì)上來說,，癌癥是一種遺傳病,。生物技術(shù)的發(fā)展，比如基因芯片讓研究者能夠在不同的生物儀器和條件的情況下,，進行有關(guān)癌癥的,、多基因的高通量比較。成千上萬的基因只有很小的不同,，但是正是這些很小的區(qū)別造成臨床上的差異,。
科學(xué)家們通過對NPM1的基因劑量，表達水平和遺傳變異進行了廣泛的研究,，結(jié)果表明,，NPM1有可能成為臨床癌癥診斷的指示。NPM是一個多功能的核仁磷蛋白質(zhì),，它在細胞增殖和動態(tài)平衡中起關(guān)鍵作用,，比如核糖體的生物合成,，中心粒的復(fù)制，細胞循環(huán)和細胞分化,。
NPM1被認為是癌癥遺傳學(xué)中的一個關(guān)鍵基因,，它可以調(diào)節(jié)ARF-p53腫瘤抑制和細胞凋亡，是第一致癌基因MycD轉(zhuǎn)錄靶標,，還可以調(diào)控p53的穩(wěn)定性和轉(zhuǎn)錄活性,。實際上，NPM1存在于正常的細胞中,，只有在細胞增殖或是腫瘤發(fā)生的情況下,，它才會在增殖過程或是致癌的壓力下過量表達。芯片分析得出NPM mRNA過量表達同腫瘤高級階段相關(guān),?？茖W(xué)家分析了人膀胱癌NPM1cDNA，發(fā)現(xiàn)了在群體中更高的NPM1序列一致性同腫瘤細胞分化,，高級腫瘤階段和復(fù)發(fā)可能有相關(guān)性,。NPM1基因變異在群體學(xué)意義上將成為一種有價值的，反應(yīng)同癌癥關(guān)聯(lián)的病理生理學(xué)工具,。
相關(guān)論文發(fā)表在愛思唯爾期刊《基因組學(xué)》（Genomics）上,。（科學(xué)新聞雜志 周媛媛/編譯）
生物谷推薦原始出處：
（Genomics）,，doi:10.1016/j.ygeno.2007.07.006,，Chien-Lun Chen，Benjamin Yat-Ming Yung
Can probability of genetic mutation be an indicator of clinical relevance?
Chien-Lun Chena, b, Ke-Hung Tsuia, Chiao-Yun Linc, Phei-Lang Changa, Petrus Tangc and Benjamin Yat-Ming Yungd, ,
aDepartment of Urology, Chang Gung Memorial Hospital, Chang Gung Bioinformatics Center, Kwei-Shan, Tao-Yuan 333, Taiwan, Republic of China
bGraduate Institute of Clinical Medical Sciences, College of Medicine, Kwei-Shan, Tao-Yuan 333, Taiwan, Republic of China
cDepartment of Parasitology, Chang Gung Bioinformatics Center, Kwei-Shan, Tao-Yuan 333, Taiwan, Republic of China
dDepartment of Pharmacology, College of Medicine, Chang Gung University, Kwei-Shan, Tao-Yuan 333, Taiwan, Republic of China
Received 30 May 2007; accepted 11 July 2007. Available online 24 October 2007.
Abstract
NPM1 gene mutation evaluated on a population basis is a valuable and realistic tool to reflect the pathophysiological relevance of cancer. In a comparison of the NPM1 cDNA of human bladder cancer with its consensus sequence, we have found that a higher NPM1 sequence identity in a population is consistent with poor tumor differentiation, advanced tumor stage, and likelihood of recurrence. These data imply that “probability” of NPM1 mutation is an indicator of status of malignancy.
