一項(xiàng)新的研究表明,，在一個(gè)特定基因中缺乏一小段DNA可以防止人體出現(xiàn)雙相情感障礙,。谷氨酸是一種神經(jīng)遞質(zhì)，即在神經(jīng)元之間傳遞信號(hào)的分子,。大腦的谷氨酸信號(hào)傳導(dǎo)的破壞與幾種精神病有聯(lián)系,。
Ben Pickard及其同事此前發(fā)現(xiàn)了一個(gè)谷氨酸受體基因（GRIK4）的一個(gè)區(qū)域和雙相情感障礙的發(fā)病風(fēng)險(xiǎn)降低有關(guān)。這組科學(xué)家如今把注意力集中在了產(chǎn)生這種保護(hù)效果的DNA變異上：這是跟隨著該基因的一個(gè)非編碼區(qū)的一個(gè)刪除,。他們的統(tǒng)計(jì)分析表明在這個(gè)DNA刪除和不存在雙相情感障礙之間有強(qiáng)有力的聯(lián)系,，而且他們?cè)卺槍?duì)第二群人的研究中成功地重復(fù)了這一分析,。這個(gè)基因刪除看上去增加了負(fù)責(zé)制造更多的谷氨酸受體的信使RNA的水平。
這組科學(xué)家說(shuō),，這些結(jié)果提示它有可能讓醫(yī)生用增加受體活性的藥物治療雙相情感障礙,，補(bǔ)償患者體內(nèi)表達(dá)的減少。(生物谷Biooncom)
生物谷推薦原始出處:
PNAS published September 29, 2008, doi:10.1073/pnas.0800643105
A common variant in the 3′UTR of the GRIK4 glutamate receptor gene affects transcript abundance and protects against bipolar disorder
B. S. Pickard, H. M. Knight, R. S. Hamilton, D. C. Soares, R. Walker, J. K. F. Boyd, J. Machell, A. Maclean, K. A. McGhee, A. Condie, D. J. Porteous, D. Clair, I. Davis, D. H. R. Blackwood, and W. J. Muir
Underactivity of the glutamatergic system is an attractive model for the pathophysiology of several major mental illnesses. We previously described a chromosome abnormality disrupting the kainate class ionotropic glutamate receptor gene, GRIK4/KA1, in an individual with schizophrenia and learning disability (mental retardation). We also demonstrated in a case-control study that two physically separated haplotypes within this gene were significantly associated with increased risk of schizophrenia and decreased risk of bipolar disorder, respectively. The latter protective haplotype was located at the 3′ end of the gene. We now report the identification from carriers of the protective haplotype of a deletion variant within the 3′ untranslated region of the gene. The deletion allele also was found to be negatively associated with bipolar disorder in both initial (P = 0.00000019) and replication (P = 0.0107) case-control studies. Expression studies indicated that deletion-carrying mRNA transcripts were relatively more abundant. We postulate that this may be a direct consequence of the differences in the RNA secondary structures predicted for the insertion and deletion alleles. These data suggest a mechanism whereby the genetic protective effect is mediated through increased kainate receptor expression.
