一個跨國研究小組日前表示，他們發(fā)現(xiàn)一個決定一種罕見皮膚癌迅速自愈的基因,。這一發(fā)現(xiàn)意味著未來或許可以研發(fā)針對這一基因的癌癥治療藥物,。
TGFBR1基因的突變
新加坡科學(xué)技術(shù)研究促進(jìn)局說，多發(fā)性自愈性鱗狀上皮癌是一種罕見的皮膚癌，它在發(fā)病初期生長迅速，但在數(shù)周后往往會自行消退,。研究人員發(fā)現(xiàn)，其獨(dú)特的自愈現(xiàn)象是由于TGFBR1基因不能發(fā)揮作用,。他們還發(fā)現(xiàn)，對其他癌癥而言,，使這一基因不發(fā)揮作用也可以阻斷癌細(xì)胞傳遞相關(guān)指令,。
參與這一研究的蘇格蘭鄧迪大學(xué)遺傳學(xué)專家戴維·古迪說，40多年來科學(xué)家一直對這種皮膚癌的自愈現(xiàn)象百思不解,。了解TGFBR1基因?qū)δ[瘤的影響,，就可以推斷一些殺死或促進(jìn)癌細(xì)胞生長的藥物在臨床上可能產(chǎn)生的效果。
不過,，研究小組的領(lǐng)導(dǎo)者比爾吉特·雷恩說,，這一基因也是正常信息傳遞機(jī)制所必需的,，因此“不能不分青紅皂白阻止它的作用”。
該小組成員包括蘇格蘭,、新加坡和其他地區(qū)的研究人員,。他們的發(fā)現(xiàn)于2月28日發(fā)表在最新一期《自然·遺傳學(xué)》雜志上。（生物谷Bioon.com）
生物谷推薦原文出處：
Nature Genetics doi:10.1038/ng.780
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1
David R Goudie,1, 16 Mariella D'Alessandro,2, 16 Barry Merriman,3 Hane Lee,3 Ildikó Szeverényi,4 Stuart Avery,4 Brian D O'Connor,3 Stanley F Nelson,3 Stephanie E Coats,1 Arlene Stewart,1 Lesley Christie,5 Gabriella Pichert,6 Jean Friedel,7 Ian Hayes,8 Nigel Burrows,9 Sean Whittaker,10 Anne-Marie Gerdes,11, 12 Sigurd Broesby-Olsen,13 Malcolm A Ferguson-Smith,14 Chandra Verma,15 Declan P Lunny,4 Bruno Reversade4 & E Birgitte Lane2, 4
Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith disease (FSD), is an autosomal-dominant skin cancer condition characterized by multiple squamous-carcinoma–like locally invasive skin tumors that grow rapidly for a few weeks before spontaneously regressing, leaving scars1, 2. High-throughput genomic sequencing of a conservative estimate (24.2 Mb) of the disease locus on chromosome 9 using exon array capture identified independent mutations in TGFBR1 in three unrelated families. Subsequent dideoxy sequencing of TGFBR1 identified 11 distinct monoallelic mutations in 18 affected families, firmly establishing TGFBR1 as the causative gene. The nature of the sequence variants, which include mutations in the extracellular ligand-binding domain and a series of truncating mutations in the kinase domain, indicates a clear genotype-phenotype correlation between loss-of-function TGFBR1 mutations and MSSE. This distinguishes MSSE from the Marfan syndrome–related disorders in which missense mutations in TGFBR1 lead to developmental defects with vascular involvement but no reported predisposition to cancer.
