研究人員發(fā)現(xiàn)了罹患嚴(yán)重且會令人感到虛弱的低血糖癥的人的體內(nèi)的一種過度活躍的酶,。低血糖癥是一種機(jī)體無法維持足夠血糖濃度的疾病。
在這種罕見形式的低血糖癥中,，患者如果在大約3個小時內(nèi)不吃東西就會失去知覺或發(fā)生癲癇。
在一篇Brevium中,，Khalid Hussain及其同事分析了3位沒有關(guān)系的兒童的基因組序列并發(fā)現(xiàn),，這些孩子都存在著AKT2基因的一種變異，而該基因所編碼的是一種在由胰島素控制的細(xì)胞信號轉(zhuǎn)導(dǎo)通路中的關(guān)鍵性的酶,。 那些因?yàn)榛蜃儺惗笰KT2酶失活的人具有很高的血糖水平,，并對胰島素有著嚴(yán)重的抵抗性。
由Hussain及其同事發(fā)現(xiàn)的這種變異則有著相反的效果：它會在無論什么水平的胰島素的情況下令A(yù)KT2一直處于激活狀態(tài),，因而根本性地?fù)p害了機(jī)體調(diào)節(jié)血糖水平的機(jī)制,。 文章的作者提出，他們的發(fā)現(xiàn)可能給人們提供了一個研發(fā)治療嚴(yán)重低血糖癥的起始點(diǎn)。（生物谷 Bioon.com）
doi:10.1126/science.1210878
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An Activating Mutation of AKT2 and Human Hypoglycemia
K. HussainB. Challis, N. Rocha, F. Payne, M. Minic, A. Thompson, A. Daly, C. Scott, J. Harris, B. J. L. Smillie, D. B. Savage, U. Ramaswami, P. De Lonlay, S.O’Rahilly, I. Barroso, R. K. Semple
Many persistent pain states (pain lasting for hours, days, or longer) are poorly treated because of the limitations of existing therapies. Analgesics such as nonsteroidal anti-inflammatory drugs and opioids often provide incomplete pain relief and prolonged use results in the development of severe side effects. Identification of the key mediators of various types of pain could improve such therapies. Here, we tested the hypothesis that hitherto unrecognized cytokines and chemokines might act as mediators in inflammatory pain. We used ultraviolet B (UVB) irradiation to induce persistent, abnormal sensitivity to pain in humans and rats. The expression of more than 90 different inflammatory mediators was measured in treated skin at the peak of UVB-induced hypersensitivity with custom-made
