额颞叶变性(FTLD)通常会导致痴呆症，如今，研究人员发现，一种普通的遗传变异与额颞叶前性有关，新成果发表在2月在线出版的《自然—遗传学》期刊上。
额颞叶变性表现为大脑特定领域里的进展性退化，并伴随进展性的行为和语言的缺失。50%的被诊断为这种疾病的患者都有特定的FTLD—TDP，其特征为TDP—43蛋白质的神经元堆积。
Van Deerlin和同事对近600位曾患该病的尸体进行了FTLD—TDP分析，确证了TDP—43堆积的神经病理学证据。科学家们发现，染色体7p21上的一种普通遗传变异与FTLD—TDP风险的增加有关。（生物谷Bioon.com）
生物谷推荐原始出处：
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.
