額顳葉變性(FTLD)通常會(huì)導(dǎo)致癡呆癥，如今,，研究人員發(fā)現(xiàn),，一種普通的遺傳變異與額顳葉前性有關(guān),，新成果發(fā)表在2月在線出版的《自然—遺傳學(xué)》期刊上,。
額顳葉變性表現(xiàn)為大腦特定領(lǐng)域里的進(jìn)展性退化,，并伴隨進(jìn)展性的行為和語(yǔ)言的缺失,。50%的被診斷為這種疾病的患者都有特定的FTLD—TDP,，其特征為TDP—43蛋白質(zhì)的神經(jīng)元堆積。
Van Deerlin和同事對(duì)近600位曾患該病的尸體進(jìn)行了FTLD—TDP分析,，確證了TDP—43堆積的神經(jīng)病理學(xué)證據(jù),。科學(xué)家們發(fā)現(xiàn),，染色體7p21上的一種普通遺傳變異與FTLD—TDP風(fēng)險(xiǎn)的增加有關(guān),。（生物谷Bioon.com）
生物谷推薦原始出處：
Nature Genetics 14 February 2010 | doi:10.1038/ng.536
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP)1. FTLD-TDP is frequently familial, resulting from mutations in GRN (which encodes progranulin). We assembled an international collaboration to identify susceptibility loci for FTLD-TDP through a genome-wide association study of 515 individuals with FTLD-TDP. We found that FTLD-TDP associates with multiple SNPs mapping to a single linkage disequilibrium block on 7p21 that contains TMEM106B. Three SNPs retained genome-wide significance following Bonferroni correction (top SNP rs1990622, P = 1.08 × 10?11; odds ratio, minor allele (C) 0.61, 95% CI 0.53–0.71). The association replicated in 89 FTLD-TDP cases (rs1990622; P = 2 × 10?4). TMEM106B variants may confer risk of FTLD-TDP by increasing TMEM106B expression. TMEM106B variants also contribute to genetic risk for FTLD-TDP in individuals with mutations in GRN. Our data implicate variants in TMEM106B as a strong risk factor for FTLD-TDP, suggesting an underlying pathogenic mechanism.
