亨廷顿疾病发现铺平了潜在治疗的方法
纽约，N.Y。，1997年8月8日 - 近20年前，哥伦比亚大学研究人员观察了亨廷顿疾病的人们的脑细胞变化。今天，这些变化的重要性终于解释了 - 新发现可能导致进步，退行性脑疾病的治疗或治愈。在8月8日问题中，医学和分子遗传学博士的吉尔博士，伦敦家伙医院;斯蒂芬博士W.伦敦大学学院解剖学和发展生物学系戴维斯;Hans Lehrach博士和柏林Max Planck分子遗传学研究所的Erich Wanker博士及其同事描述了前所未有的清晰度的变化。他们发现的细胞和生化机制可能是开发新药的起点，这些药物可能会中断亨廷顿疾病的进展或防止风险的人们。亨廷顿疾病（HD）的基因于1993年通过南希·魏克勒，博士，博士，哥伦比亚大学临床神经心理学博士学位，博士学位，哥伦比亚大学临床神经心理学博士学位，纽约州哥伦比亚大学和总裁遗传性疾病基础在圣莫尼卡，加利福尼亚。在魏克斯勒的方向下，基金会已形成治愈亨廷顿的疾病倡议，以加速研究对治疗的研究进展。亨廷顿疾病的症状包括异常运动，情绪，抑郁，慢性和言语丧失，最终，认知障碍，尿失禁和不懈的下降超过10至20年。 This progressive degenerative brain disease affects about 30,000 Americans; 150,000 more have a genetic risk for developing the illness. The cause is a mutation in a gene located on chromosome 4: instead of having molecule groups that repeat a small number of times, they repeat 40 or more times and produce a defective form of the huntingtin protein. The defective protein interacts with brain cells, though exactly how has not been known. In 1979, researchers from the Columbia University College of Physicians & Surgeons in New York viewed HD changes in biopsied human brain cells and described the damage as clumps, fibers, and masses in the cell nucleus. The Bates and Davies group and a second international team of investigators have now, nearly 20 years later, explained what the Columbia researchers found. Using new "transgenic" mice developed by Dr. Bates to contain a disease-causing fragment of the human HD gene, the researchers saw in the nucleus of each mouse brain cell a rough, grainy, circular, sometimes fiber-fringed structure that strikingly resembled structures seen by the Columbia University researchers in the brain cell nuclei of people with HD. The Bates group labeled them neuronal intranuclear inclusions (NII). Analysis using monoclonal antibody technology not available in 1979 revealed that NIIs were aggregates (clumps) of huntingtin protein. The protein entered the cell nucleus through pores in the nuclear membrane. The NII were present in the brain cell nuclei of mice with symptoms very similar to HD and absent in non-transgenic control mice. "This radically changes our framework for thinking therapeutically," says Columbia's Dr. Wexler "Is there a way to prevent the protein from clumping, to break up clumps once they've formed, to keep it out of the nucleus or to attack the mysterious signals that start the process?
“在早期的发展中，当一切正常时，蛋白质正在像奥德修斯在他的船上帆船一样游泳，”她解释道。“他听到了乡村的警报歌曲，最终被核心淹没而不是回家。”
Wexler博士是关于这些调查结果的“欣喜若狂的”，他们将在有效治疗方向上领导研究人员。目前，血液试验可以检测HD基因，但没有固化和没有有效的治疗方法。在第二次研究中，通过Max Planck Institute的Eberhard Scherzinger领导的国际集团宣布，他们已经找到了一种在试管中重建蛋白质团块的方法，这将使开发新疗法更容易这可以防止丛生。
贝茨研究部分受到遗传性疾病基础的支持。基金会的目标是由魏德勒的父亲，米尔顿·魏克斯勒成立，是为旨在揭示亨廷顿疾病和相关遗传和神经系统疾病的基本科学研究的知识刺激和财政支持。遗传性疾病基金会还寻求推进这些可治区和毁灭性疾病的治疗。基金会治愈亨廷顿的疾病倡议将支持进一步研究有效治疗HD的药物。