在2月28日《科學(xué)》（Science）雜志的在線版上,，研究人員報(bào)道說(shuō),，已經(jīng)找到了一種與某些病例的肌萎縮性側(cè)索硬化（ALS，也被稱為L(zhǎng)ou Gehrig氏?。┫嚓P(guān)的罕見(jiàn)基因變異,。這些發(fā)現(xiàn)可能會(huì)幫助研究人員，更多地了解這一致命的成年時(shí)起病的運(yùn)動(dòng)神經(jīng)元疾病的發(fā)展過(guò)程,。該疾病中有5-10%的病例是有遺傳性的（其他病例的發(fā)病原因尚不清楚）,。
Jemeen Sreedharan及其在英國(guó)和澳大利亞的同僚對(duì)英國(guó)的一個(gè)遺傳性ALS的大家族進(jìn)行了分析。他們?cè)谝粋€(gè)叫做TDP-43的基因中發(fā)現(xiàn)了一種變異,，而該變異看來(lái)與該疾病有關(guān),。研究人員在受ALS影響的神經(jīng)元中發(fā)現(xiàn)了團(tuán)簇狀的TDP-43蛋白，而這些結(jié)果進(jìn)一步加強(qiáng)了TDP-43與該疾病之間的關(guān)聯(lián)性,。
生物谷推薦原始出處：
（Science）,，DOI: 10.1126/science.1154584，Jemeen Sreedharan,，Christopher E. Shaw
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Jemeen Sreedharan , Ian P. Blair , Vineeta B. Tripathi , Xun Hu , Caroline Vance , Boris Rogelj , Steven Ackerley , Jennifer C. Durnall , Kelly L. Williams , Emanuele Buratti , Francisco Baralle , Jacqueline de Belleroche , J. Douglas Mitchell , P. Nigel Leigh , Ammar Al-Chalabi , Christopher C. Miller , Garth Nicholson , Christopher E. Shaw
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterised pathologically by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. The function of TDP-43 in the nervous system is uncertain and a mechanistic role in neurodegeneration remains speculative. We identified neighbouring mutations in a highly conserved region of TARDBP in sporadic and familial ALS cases. TARDBPM337V segregated with disease within one kindred and a genome-wide scan confirmed that linkage was restricted to chromosome 1p36, which contains the TARDBP locus. Mutant forms of TDP-43 fragmented more readily than wild-type in vitro and caused neural apoptosis and developmental delay in the chick embryo in vivo. Our evidence suggests a pathophysiological link between TDP-43 and ALS.
