近日，瑞典研究人員在《柳葉刀腫瘤學(xué)》雜志上發(fā)表論文稱：亨廷頓氏癥或其他疾病被稱為多聚谷氨酰胺（polyQ蛋白）疾病的罹患癌癥的風(fēng)險(xiǎn)較低,，其原因?yàn)橐环N常見的遺傳機(jī)制,。
多聚谷氨酰胺（polyQ蛋白）疾病是一種罕見的神經(jīng)退化性疾病。
多聚谷氨酰胺（polyQ蛋白）疾病包括脊髓延髓性肌萎縮癥（SBMA）、亨廷頓氏?。℉D）,，齒狀核紅核蒼白球丘腦下部核萎縮，以及六種類型的脊髓小腦性共濟(jì)失調(diào),。polyQ蛋白疾病患者中樞神經(jīng)系統(tǒng)的神經(jīng)元逐步退化,。
所有polyQ蛋白疾病具有含有多聚谷氨酰胺的蛋白質(zhì)積聚在細(xì)胞質(zhì)和/或細(xì)胞核中，與許多基因的活性轉(zhuǎn)錄因子相互作用,。這種積聚最終導(dǎo)致細(xì)胞的機(jī)械功能障礙和細(xì)胞死亡,。
隆德大學(xué)Jianguang Ji博士和他在瑞典馬爾默斯科訥大學(xué)醫(yī)院的研究團(tuán)隊(duì)相信，同樣的機(jī)制可能降低癌癥與polyG疾病的患者疾病的發(fā)展,。研究人員從1969年1月瑞典癌癥登記數(shù)據(jù)分析至2008年12月,。
他們發(fā)現(xiàn)了與HD 1510例，其中91例（6％）被診斷出患有癌癥,， 471例spinobulbar性肌萎縮癥患者有34例或7％的患者被診斷出患有癌癥,，以及3,425例hereditary ataxi中有421或12％的患者被診斷為癌癥。
我們的研究結(jié)果表明,，polyQ蛋白疾病能保護(hù)患者免受癌癥,，未來的研??究應(yīng)探討polyQ蛋白疾病的患者在減少患癌癥的風(fēng)險(xiǎn)的具體相關(guān)生物學(xué)機(jī)制,。（生物谷：Bioon.com）
doi:10.1016/S1470-2045(12)70132-8
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Cancer incidence in patients with polyglutamine diseases: a population-based study in Sweden
Dr Jianguang Ji MD, Prof Kristina Sundquist MD and Prof Jan Sundquist MD
Background
Polyglutamine (polyQ) diseases are characterised by the expansion of CAG triplet repeats in specific genes. The accumulated encoded proteins affect the transcription of numerous transcription factors. We investigated whether polyQ diseases reduce the risk of cancer development.
Methods
Data on patients with the polyQ diseases Huntington's disease (HD), spinobulbar muscular atrophy (SBMA), and hereditary ataxia (HA) in Sweden were linked to the Swedish Cancer Registry. We calculated standardised incidence ratios for cancers at specific sites or of specific types and the risks were compared with those in the general population. We also analysed risks in the unaffected parents of patients.
Findings
In the period January, 1969, to December, 2008, we identified 1510 patients with HD, 471 with SBMA, and 3425 with HA. Cancer was diagnosed in 91 (6·0%) HD patients, 34 (7·2%) SBMA patients, and 421 (12·3%) HA patients. The standardised incidence ratios were 0·47 (95% CI 0·38—0·58), 0·65 (0·45—0·91), and 0·77 (0·70—0·85), respectively. Before diagnosis of polyQ disease, the risk of cancer was even lower. Cancer incidence and risk in the unaffected parents of patients with polyQ diseases were similar to those in the general population.
Interpretation
The consistently decreased incidence of cancer in patients with polyQ diseases suggests that a common mechanism protects against the development of cancer. This feature could be related to the polyQ-tract expansion seen in these diseases. Further studies are warranted to investigate the underlying mechanisms linking cancer and polyQ diseases.
Funding
Swedish Cancer Society, Swedish Council for Working Life and Social Research.
