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【Science Translational Medicine】"未老先衰" 症患者的福音 - 雷怕霉素 (Rapamycin) !!!

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这个帖子发布于9年零207天前，其中的信息可能已发生改变或有所发展。

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"未老先衰" 即早衰症 (Progeria): 患者衰老的速度是正常人的 10 倍, 或是说 5 岁的患者, 其衰老程度似同 50 岁的常人; 患者大都在童年是就开始脱发, 头颅与身躯比例 "超大", 皮下静脉清晰可见, 关节僵化, 髋关节脱位... 等. 早衰病的英文全名是 - Hutchinson-Gilford progeria syndrome. 其病因是 "早衰蛋白 (progerin)" 在细胞内积聚, 无法被清除, 以致造成细胞死亡, 机体早衰.

最近, NIH 人类基因组研究中心, 哈佛-麻省总医院 (MGH) 和马里兰大学的研究人员在 Science Translational Medicine 发文证实, 雷怕霉素 (Rapamycin) 可用于治疗早衰症 ... !

值得一提的是, 文章的第一作者是为华人 (Kan Cao), 通讯作者是著名分子生物学家, 前 NIH 的 "头儿", 人类基因组项目负责人, Dr. Francis S. Collins.
______________________________________

The Progeria Research Foundation
http://www.progeriaresearch.org/

___________________________________________

新闻报道:

Progeria, seen in this boy, causes premature aging, hair loss and physical problems seen in the elderly.

(C_N_N) -- Her name was Meg, 23, featherweight and feisty.

Standing 3 feet tall, Meg didn't look like her peers. Bald and skinny, her body was aging rapidly because she had a rare genetic disease called Hutchinson-Gilford progeria syndrome.

People with progeria wrinkle and develop the same circulation and joint ailments as the elderly -- except most of them die by age 13.

Progeria affects 200-250 children worldwide, but research into the disease could offer clues on cellular function and how it affects human aging and other age-related diseases.

This week, a study about a possible treatment was published in Science Translational Medicine. Dr. Francis Collins, director of the National Institutes of Health, is one of the authors.

About 30 years ago, Collins, then a young Yale University doctor, met Meg. He realized there was little he could do for his patient, but he couldn't look away.

"It was compelling to try to understand why someone's body is melting away in the ravages of age," he said. "You couldn't be involved without marveling at it and wanting to do something to understand the situation."

Collins offered his concern and compassion, but there was no treatment for her disease.

Despite her grave prospects and appearance, Meg did not shy away from the public eye. Instead, she became an outspoken advocate for disabled people in Milford, Connecticut.

Long before it became customary to do so, "She got that town to become friendly to the disabled," Collins said. "She made it happen."

Just because she was diminutive, it didn't mean people could step all over her. Meg could also "curse like a sailor" in her birdlike voice, he said.

Meg Casey died in 1985, but she never faded from the doctor's memory.

Dr. Francis Collins met his first progeria patient 30 years ago.

Collins' role as a geneticist is to decode the most complex puzzles of human life. He is best known as a leader of the Human Genome Project that mapped and sequenced the human DNA.

The mystery of progeria remained one of his interests. Collins and seven others are authors of a study that found an immune suppressing drug, called rapamycin, could possibly treat progeria.

There have been no approved drugs or treatment to slow the course of the disease.

Children with this rare genetic condition lose their hair as infants, while they're learning to talk. Their minds develop normally, but their bodies age rapidly.

As toddlers, their skin begins to wrinkle and sag. Most of them die of age-related causes, like heart disease, heart attack or stroke, before they start high school.

Clues found in mysterious childhood aging disease

The cause: A single letter in a progeria patient's genome is out of place. This genetic defect causes the child to accumulate too much of a toxic protein called progerin and the cells can't get rid of it.

"Cells have a normal way of removing byproducts," said Dr. Dimitri Krainc, an author in the study. "You accumulate trash and you take it out. That's what happens in cells. As they work, they start accumulating byproducts. There has to be a system to remove those byproducts."

Progerin is seen in small amounts in healthy people's cells as they begin to age. The difference is that healthy cells can get rid of the damaged molecules and unneeded proteins.

The researchers chose to test rapamycin on cells from progeria patients because research suggested its effectiveness in extending the lives of mice. Rapamycin is an immune-suppressing drug given to transplant recipients to prevent organ rejection.

Krainc, an associate professor of medicine at Harvard University, said cells from progeria patients look "very sick."

"When you treat them with rapamycin, it looks normal," he said. The drug appeared to activate a cellular system that removes the waste.

"Rapamycin or similar drugs of that same class are capable of revving up that cleanup system," Collins said.

But the drug comes with major risks because it raises cholesterol levels and suppresses the immune system, making patients more vulnerable to infections. Rapamycin was derived from bacteria found in the soil of Easter Island in the 1960s.

The results of the progeria study triggered discussions about a potential human clinical trial.

"I can't say what the drug will do before clinical trial," Krainc said. "We're very hopeful, because of the dramatic effect (in cells) was replicated."

The protein buildup in cells is seen in other diseases, such as Alzheimer's and Parkinson's disease. Alzheimer's patients have tau protein tangles and another protein called the beta amyloid plaques in their brains. Parkinson's patients have a buildup of a protein called alpha-synuclein.
Some scientists hypothesize that the cell's inability to dispose of unnecessary protein as humans age is what could lead to severe illnesses.

"This is a fundamentally important pathway by which cells maintain their own health," Collins said. "Yet as we age, we don't do it quite as well and the buildup starts to happen."

The Progeria Research Foundation, a nonprofit that supports affected families and promotes scientific research on the disease, supplied tissue and cell samples for the study.

Dr. Leslie Gordon, the foundation's medical director and a mother of a boy with progeria, said scientists are considering the use of RAD001, a modified version of rapamycin that has fewer side effects in a potential human trial.

"Nothing is in place," she said. "These things take instructional and federal scrutiny. We're considering this based on this very study."

For years, progeria research languished as another orphan disease. Rare diseases struggle to attract attention and research dollars because they affect very few people.

Drug development favors common diseases that could lead to blockbuster medications. This leaves patients and families of orphan diseases with little support or medical options.

"The first thing that we discovered after my son was diagnosed was there was nothing out there to help researchers to do research -- no cells or tissue, no clinical information bank, no outreach for families," said Gordon. "There was nothing to work with."

The foundation established a cell and tissue bank and started efforts to identify more progeria patients. It is involved in a different clinical trial involving a three-drug cocktail to treat progeria.

It hasn't been easy trying to bring attention and resources to a rare disease, Gordon said.

"For all the times people could not help, there are people like Francis (Collins) who say yes," Gordon said. "When we approached him, it was the fact that he cared and the fact that it bothered him that we didn't have the answer."

"He's not only interested in science, he's interested in people."

Collins has met her young son, Sam.

Patients with progeria are enthusiastic, precocious and embrace life, Collins said.

"They're taking what most of us look at as a really discouraging situation and saying, 'No, darn it. I'm going to make the most of it. If I have a shortened time being here, I'm not going to waste it feeling sorry for myself.

"I'm going to make the most of it.'"

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2011-07-03 04:21 浏览 : 15227 回复 : 50

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xatrixer 编辑于 2011-07-03 07:26

• 临床要不要去做超声，超声科待遇怎么样？

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Science Translational Medicine, 29 June 2011 Vol 3 Issue 89 89ra58

原文 in PDF:

2011-07-03 04:27

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• 大家见过从患者体内取出过哪些异物？

ruijie

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如果真的是这样，是不是也可以用于正常的老年人呢

2011-07-03 17:41

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• 首张“新冠患者分子全景图”

qjluo

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谢谢楼主提供的这个话题，受益匪浅。

以下是翻译的初稿，与诸位站友共享。

划线部分，是我不是很确定的翻译内容。不妥之处，请楼主和各位站友指正。

Progeria, seen in this boy, causes premature aging, hair loss and physical problems seen in the elderly.
正如从这个小男孩中看到的，早衰症可以引起过早衰老、头发掉落以及老年人中才出现的生理问题。

(C_N_N) -- Her name was Meg, 23, featherweight and feisty.
（美国有线新闻网）---她的名字叫Meg，23岁，体重很轻，易怒。

Standing 3 feet tall, Meg didn't look like her peers. Bald and skinny, her body was aging rapidly because she had a rare genetic disease called Hutchinson-Gilford progeria syndrome.
站立起来只有3英尺高，Meg看起来和同龄人有很大的差异。秃顶、消瘦，Meg的身体老化的很快，这是因为她罹患了一种叫做Hutchinson-Gilford早年衰老综合症的罕见遗传疾病。

People with progeria wrinkle and develop the same circulation and joint ailments as the elderly -- except most of them die by age 13.
罹患早衰症的患者，皮肤会起皱，13岁后就会出现和老年人中那样的循环和关节疾病，但是他们中大多数人无法活到13岁。

Progeria affects 200-250 children worldwide, but research into the disease could offer clues on cellular function and how it affects human aging and other age-related diseases.
全世界范围内只有约有200-250名儿童罹患这种疾病，但是对这种疾病的研究可以为细胞功能及其如何影响人类老化及其它老化相关疾病的研究提供线索。

This week, a study about a possible treatment was published in Science Translational Medicine. Dr. Francis Collins, director of the National Institutes of Health, is one of the authors.
本周，Science Translational Medicine杂志报道的一项研究，有望能应用于这种疾病的治疗。这项研究报道的作者之一，便是美国国立卫生研究院院长Francis Collins博士。

About 30 years ago, Collins, then a young Yale University doctor, met Meg. He realized there was little he could do for his patient, but he couldn't look away.
大约在30年前，当时还是耶鲁大学一位年轻医生的Collins遇到了Meg。他认识到对于这个病人，他所能做的微乎其微，但他并未放弃对这个问题的研究。

"It was compelling to try to understand why someone's body is melting away in the ravages of age," he said. "You couldn't be involved without marveling at it and wanting to do something to understand the situation."
他说：“这激励着我去了解为什么有些人的身体这样被迅速老外而破坏。你无法不对此感到震惊，并试图去做些研究来了解到底发生了什么。”

Collins offered his concern and compassion, but there was no treatment for her disease.
对于Meg，Collins表示了关心和同情，但是那时并没有治疗这种疾病的方法。

Despite her grave prospects and appearance, Meg did not shy away from the public eye. Instead, she became an outspoken advocate for disabled people in Milford, Connecticut.
尽管面容苍老并面临着死亡的威胁，Meg并未选择逃离公众的视野。相反，她成为康乃迪克州一位坦率直言的、为米尔福德残疾人维权的倡导者。

Long before it became customary to do so, "She got that town to become friendly to the disabled," Collins said. "She made it happen."
她很早以前就习惯于这样做了。Collins说：“Meg使这座小镇变的对残疾人很友善，是她促成这一切的。”

Just because she was diminutive, it didn't mean people could step all over her. Meg could also "curse like a sailor" in her birdlike voice, he said.
尽管Meg体型矮小，但这并不意味着人们就可以凌驾于她之上。Collins说，她也能用她的似小鸟般的声音“像水手一样爆粗口”。

Meg Casey died in 1985, but she never faded from the doctor's memory.
Meg Casey死于1985年，但是Collins从未忘记过她。

Dr. Francis Collins met his first progeria patient 30 years ago.
30年前，Collins第一次遇到早衰症患者。

Collins' role as a geneticist is to decode the most complex puzzles of human life. He is best known as a leader of the Human Genome Project that mapped and sequenced the human DNA.
作为遗传学家，Collins的职责是去揭秘人生命中众多复杂的难题，其中最著名的是，他曾经领导用来绘制人类DNA序列图谱的人类基因组项目。

The mystery of progeria remained one of his interests. Collins and seven others are authors of a study that found an immune suppressing drug, called rapamycin, could possibly treat progeria.
早衰症的奥秘仍然是Collins的研究兴趣之一，他和这项研究报道的其它七位作者通过研究发现一种名为雷帕霉素的免疫抑制剂有可能用于早衰症的治疗。

There have been no approved drugs or treatment to slow the course of the disease.
目前还没有获批的药物或治疗方法能够延缓早衰症疾病发生进程。

Children with this rare genetic condition lose their hair as infants, while they're learning to talk. Their minds develop normally, but their bodies age rapidly.
罹患这种罕见遗传疾病的儿童在婴儿时期就会头发掉落，那时他们还在学习如何说话。这些儿童智力发育正常，但是身体却迅速老化。

As toddlers, their skin begins to wrinkle and sag. Most of them die of age-related causes, like heart disease, heart attack or stroke, before they start high school.
在蹒跚学步时，他们的皮肤就会褶皱和松弛。他们中大多数人在还未能进入高中学习时，就会死于心脏疾病、心脏病发作或者中风等老化相关疾病。

Clues found in mysterious childhood aging disease
发现这种神秘儿童老化疾病的线索

The cause: A single letter in a progeria patient's genome is out of place. This genetic defect causes the child to accumulate too much of a toxic protein called progerin and the cells can't get rid of it.
病因：早衰症患者基因组的一处编码发生错误。这种基因缺陷导致儿童体内蓄积太多的被称为Progerin的毒性蛋白，而细胞无法将这些蛋白清除出去。

"Cells have a normal way of removing byproducts," said Dr. Dimitri Krainc, an author in the study. "You accumulate trash and you take it out. That's what happens in cells. As they work, they start accumulating byproducts. There has to be a system to remove those byproducts."
这项研究报道的作者Dimitri Krainc博士说：“细胞有一种可以清除副产物的常规途径，当你蓄积有很多垃圾时，你会选择把它们扔出去，细胞其实也会这样做。细胞在工作的过程中，会产生副产物，他们也必须有一套可以将这些副产物清除出去的系统。”

Progerin is seen in small amounts in healthy people's cells as they begin to age. The difference is that healthy cells can get rid of the damaged molecules and unneeded proteins.
健康人群开始老化时，他们的细胞中只有少量的Progerin蛋白。和早衰症患者细胞的区别在于，健康成人细胞可以将破坏的分子和不需要的蛋白清除出去。

The researchers chose to test rapamycin on cells from progeria patients because research suggested its effectiveness in extending the lives of mice. Rapamycin is an immune-suppressing drug given to transplant recipients to prevent organ rejection.
研究人员尝试考察雷帕霉素对早衰症患者细胞的影响，是基于有研究显示雷帕霉素可以有效延长小鼠的生命。雷帕霉素是一种给接受移植的病人服用来减少器官排异反应的免疫抑制剂。

Krainc, an associate professor of medicine at Harvard University, said cells from progeria patients look "very sick."
哈佛大学医学院副教授Krainc说，早衰症患者的细胞看起来“病得很重”。

"When you treat them with rapamycin, it looks normal," he said. The drug appeared to activate a cellular system that removes the waste.
他说：“但经过雷帕霉素处理时，这些细胞看起来恢复正常了。”雷帕霉素看起来能激活这些细胞清除细胞内废物的能力。

"Rapamycin or similar drugs of that same class are capable of revving up that cleanup system," Collins said.
Collins说：“雷帕霉素及同类类的其他药物都能够加速细胞清除系统的运行速度。”

But the drug comes with major risks because it raises cholesterol levels and suppresses the immune system, making patients more vulnerable to infections. Rapamycin was derived from bacteria found in the soil of Easter Island in the 1960s.
但是使用这个药物存在的主要风险在于这种药物可以提升胆固醇水平，并会抑制免疫系统，会使患者更容易受到感染。雷帕霉素是二十世纪六十年代从复活岛土壤中分离得到的一种细菌所产生的一种物质。

The results of the progeria study triggered discussions about a potential human clinical trial.
这项关于早衰症研究的结果引发了可能进行的早衰症临床试验方面的讨论。

"I can't say what the drug will do before clinical trial," Krainc said. "We're very hopeful, because of the dramatic effect (in cells) was replicated."
“在临床试验之前我无法判断这种药物在人身上的效果如何，”Krainc说。“我们抱有很大的希望，因为这种在细胞试验中的这种药物令人激动的结果是可重复的。”

The protein buildup in cells is seen in other diseases, such as Alzheimer's and Parkinson's disease. Alzheimer's patients have tau protein tangles and another protein called the beta amyloid plaques in their brains. Parkinson's patients have a buildup of a protein called alpha-synuclein.
Some scientists hypothesize that the cell's inability to dispose of unnecessary protein as humans age is what could lead to severe illnesses.
细胞内蛋白质蓄积在阿尔兹海默症和帕金森氏症等其它一些疾病中同样存在。阿尔兹海默症患者大脑中有缠结的tau蛋白以及一种叫β淀粉样斑块的蛋白。帕金森氏症患者体内蓄积着一种叫α-同型核蛋白的蛋白质。一些科学家猜想正是因为人类老化后细胞不能处理掉这些不需要的蛋白而导致了这些严重的疾病。

"This is a fundamentally important pathway by which cells maintain their own health," Collins said. "Yet as we age, we don't do it quite as well and the buildup starts to happen."
Collins说：“这是细胞维持自身健康的至关重要的途径，当我们老化时，我们的细胞这方面就没法做到之前那样好，于是就开始小狐仙细胞内非必需物积蓄了。”

The Progeria Research Foundation, a nonprofit that supports affected families and promotes scientific research on the disease, supplied tissue and cell samples for the study.
早衰症研究基金会，是一个对早衰症患者家庭进行支持并促进这类疾病科学研究的非盈利机构，基因会为本项研究提供了研究所需的组织和细胞样本。

Dr. Leslie Gordon, the foundation's medical director and a mother of a boy with progeria, said scientists are considering the use of RAD001, a modified version of rapamycin that has fewer side effects in a potential human trial.
基金会医学总监，同时又是一位早衰症患儿母亲的Leslie Gordon博士说：“科学家正在考虑使用RAD001，这是一种雷帕霉素衍生物，副作用比雷帕霉素小，将来有望用于早衰症治疗的临床研究。”

"Nothing is in place," she said. "These things take instructional and federal scrutiny. We're considering this based on this very study."
“早衰症没有治疗药物。”她说，“这些事情需要获得教学方面以及联邦政府的许可，我们正是基于这项研究来考虑这点的。”

For years, progeria research languished as another orphan disease. Rare diseases struggle to attract attention and research dollars because they affect very few people.
多年以来，就像其它罕见疾病一样，早衰症的研究进行的越来越少。罕见疾病由于涉及人群少，因此难以吸引到研究者的兴趣和相关经费资助。

Drug development favors common diseases that could lead to blockbuster medications. This leaves patients and families of orphan diseases with little support or medical options.
药物研究机构更倾向于选择针对常见疾病开发有可能成为“重磅**”的药物，这使得那些罹患罕见疾病的患者及其家庭得到的支持以及能选择的药物很有限。

"The first thing that we discovered after my son was diagnosed was there was nothing out there to help researchers to do research -- no cells or tissue, no clinical information bank, no outreach for families," said Gordon. "There was nothing to work with."
Gordon说；“当我儿子被诊断为早衰症时，我发现的第一件事就是没有什么在帮助研究人员进行这方面的研究：他们没有研究所需要的细胞和组织，没有这种疾病临床信息的数据库，同事没有扩展到患者家庭的服务。真的什么也没有。”

The foundation established a cell and tissue bank and started efforts to identify more progeria patients. It is involved in a different clinical trial involving a three-drug cocktail to treat progeria.
早衰症研究基金会建立了一个早衰症患者组织和细胞库，并开始努力发现更多的早衰症患者。基金会现在正在参与一项采用3种药物的鸡尾酒疗法来治疗早衰症的临床研究。

It hasn't been easy trying to bring attention and resources to a rare disease, Gordon said.
Gordon说，想让一种罕见疾病引起研究的关注以及获得相关的资源，并不是一件容易的事情。

"For all the times people could not help, there are people like Francis (Collins) who say yes," Gordon said. "When we approached him, it was the fact that he cared and the fact that it bothered him that we didn't have the answer."
“几乎所有时候人们都无法提供帮助，但是像Francis先生这样的人说了可以。”Gordon说，“当我们和Francis先生接触时，我们了解到他对早衰症很关切并且正困惑于这种疾病的相关问题，而我们同样没有这些问题的答案。”

"He's not only interested in science, he's interested in people."
“他不但关心早衰症的相关科学研究，对早衰病人也很关切。”

Collins has met her young son, Sam.
Collins见了Gordon罹患早衰症的儿子Sam。

Patients with progeria are enthusiastic, precocious and embrace life, Collins said.
Collins说，早衰症患者都很热情、早熟，并且热爱生命。

"They're taking what most of us look at as a really discouraging situation and saying, 'No, darn it. I'm going to make the most of it. If I have a shortened time being here, I'm not going to waste it feeling sorry for myself.
“他们把我们大多数人关注的事情视为一种可以激励自己的方面，告诉自己‘讨厌，我想好好利用我的生活。如果在这个世界上我停留的时间比别人短，我不想去浪费这些，免得让自己后悔。’”

"I'm going to make the most of it.'"
“我想好好利用我的生活！”

重新整理后为（共2556中文字）：

正如从这个小男孩中看到的，早衰症可以引起过早衰老、头发掉落以及老年人中才出现的生理问题。

（美国有线新闻网）---她的名字叫Meg，23岁，体重很轻，易怒。

站立起来只有3英尺高，Meg看起来和同龄人有很大的差异。秃顶、消瘦，Meg的身体老化的很快，这是因为她罹患了一种叫做Hutchinson-Gilford早年衰老综合症的罕见遗传疾病。

罹患早衰症的患者，皮肤会起皱，13岁后就会出现和老年人中那样的循环和关节疾病，但是他们中大多数人无法活到13岁。

全世界范围内只有约有200-250名儿童罹患这种疾病，但是对这种疾病的研究可以为细胞功能及其如何影响人类老化及其它老化相关疾病的研究提供线索。

本周，Science Translational Medicine杂志报道的一项研究，有望能应用于这种疾病的治疗。这项研究报道的作者之一，便是美国国立卫生研究院院长Francis Collins博士。

大约在30年前，当时还是耶鲁大学一位年轻医生的Collins遇到了Meg。他认识到对于这个病人，他所能做的微乎其微，但他并未放弃对这个问题的研究。

他说：“这激励着我去了解为什么有些人的身体这样被迅速老外而破坏。你无法不对此感到震惊，并试图去做些研究来了解到底发生了什么。”

对于Meg，Collins表示了关心和同情，但是那时并没有治疗这种疾病的方法。

尽管面容苍老并面临着死亡的威胁，Meg并未选择逃离公众的视野。相反，她成为康乃迪克州一位坦率直言的、为米尔福德残疾人维权的倡导者。

她很早以前就习惯于这样做了。Collins说：“Meg使这座小镇变的对残疾人很友善，是她促成这一切的。”

尽管Meg体型矮小，但这并不意味着人们就可以凌驾于她之上。Collins说，她也能用她的似小鸟般的声音“像水手一样爆粗口”。

Meg Casey死于1985年，但是Collins从未忘记过她。

30年前，Collins第一次遇到早衰症患者。

作为遗传学家，Collins的职责是去揭秘人生命中众多复杂的难题，其中最著名的是，他曾经领导用来绘制人类DNA序列图谱的人类基因组项目。

早衰症的奥秘仍然是Collins的研究兴趣之一，他和这项研究报道的其它七位作者通过研究发现一种名为雷帕霉素的免疫抑制剂有可能用于早衰症的治疗。

目前还没有获批的药物或治疗方法能够延缓早衰症疾病发生进程。

罹患这种罕见遗传疾病的儿童在婴儿时期就会头发掉落，那时他们还在学习如何说话。这些儿童智力发育正常，但是身体却迅速老化。

在蹒跚学步时，他们的皮肤就会褶皱和松弛。他们中大多数人在还未能进入高中学习时，就会死于心脏疾病、心脏病发作或者中风等老化相关疾病。

发现这种神秘儿童老化疾病的线索

病因：早衰症患者基因组的一处编码发生错误。这种基因缺陷导致儿童体内蓄积太多的被称为Progerin的毒性蛋白，而细胞无法将这些蛋白清除出去。

这项研究报道的作者Dimitri Krainc博士说：“细胞有一种可以清除副产物的常规途径，当你蓄积有很多垃圾时，你会选择把它们扔出去，细胞其实也会这样做。细胞在工作的过程中，会产生副产物，他们也必须有一套可以将这些副产物清除出去的系统。”

健康人群开始老化时，他们的细胞中只有少量的Progerin蛋白。和早衰症患者细胞的区别在于，健康成人细胞可以将破坏的分子和不需要的蛋白清除出去。

研究人员尝试考察雷帕霉素对早衰症患者细胞的影响，是基于有研究显示雷帕霉素可以有效延长小鼠的生命。雷帕霉素是一种给接受移植的病人服用来减少器官排异反应的免疫抑制剂。

哈佛大学医学院副教授Krainc说，早衰症患者的细胞看起来“病得很重”。

他说：“但经过雷帕霉素处理时，这些细胞看起来恢复正常了。”雷帕霉素看起来能激活这些细胞清除细胞内废物的能力。

Collins说：“雷帕霉素及同类类的其他药物都能够加速细胞清除系统的运行速度。”

但是使用这个药物存在的主要风险在于这种药物可以提升胆固醇水平，并会抑制免疫系统，会使患者更容易受到感染。雷帕霉素是二十世纪六十年代从复活岛土壤中分离得到的一种细菌所产生的一种物质。

这项关于早衰症研究的结果引发了可能进行的早衰症临床试验方面的讨论。

“在临床试验之前我无法判断这种药物在人身上的效果如何，”Krainc说。“我们抱有很大的希望，因为这种在细胞试验中的这种药物令人激动的结果是可重复的。”

细胞内蛋白质蓄积在阿尔兹海默症和帕金森氏症等其它一些疾病中同样存在。阿尔兹海默症患者大脑中有缠结的tau蛋白以及一种叫β淀粉样斑块的蛋白。帕金森氏症患者体内蓄积着一种叫α-同型核蛋白的蛋白质。一些科学家猜想正是因为人类老化后细胞不能处理掉这些不需要的蛋白而导致了这些严重的疾病。

Collins说：“这是细胞维持自身健康的至关重要的途径，当我们老化时，我们的细胞这方面就没法做到之前那样好，于是就开始小狐仙细胞内非必需物积蓄了。”

早衰症研究基金会，是一个对早衰症患者家庭进行支持并促进这类疾病科学研究的非盈利机构，基因会为本项研究提供了研究所需的组织和细胞样本。

基金会医学总监，同时又是一位早衰症患儿母亲的Leslie Gordon博士说：“科学家正在考虑使用RAD001，这是一种雷帕霉素衍生物，副作用比雷帕霉素小，将来有望用于早衰症治疗的临床研究。”

“早衰症没有治疗药物。”她说，“这些事情需要获得教学方面以及联邦政府的许可，我们正是基于这项研究来考虑这点的。”

多年以来，就像其它罕见疾病一样，早衰症的研究进行的越来越少。罕见疾病由于涉及人群少，因此难以吸引到研究者的兴趣和相关经费资助。

药物研究机构更倾向于选择针对常见疾病开发有可能成为“重磅**”的药物，这使得那些罹患罕见疾病的患者及其家庭得到的支持以及能选择的药物很有限。

Gordon说；“当我儿子被诊断为早衰症时，我发现的第一件事就是没有什么在帮助研究人员进行这方面的研究：他们没有研究所需要的细胞和组织，没有这种疾病临床信息的数据库，同事没有扩展到患者家庭的服务。真的什么也没有。”

早衰症研究基金会建立了一个早衰症患者组织和细胞库，并开始努力发现更多的早衰症患者。基金会现在正在参与一项采用3种药物的鸡尾酒疗法来治疗早衰症的临床研究。

Gordon说，想让一种罕见疾病引起研究的关注以及获得相关的资源，并不是一件容易的事情。

“几乎所有时候人们都无法提供帮助，但是像Francis先生这样的人说了可以。”Gordon说，“当我们和Francis先生接触时，我们了解到他对早衰症很关切并且正困惑于这种疾病的相关问题，而我们同样没有这些问题的答案。”

“他不但关心早衰症的相关科学研究，对早衰病人也很关切。”

Collins见了Gordon罹患早衰症的儿子Sam。

Collins说，早衰症患者都很热情、早熟，并且热爱生命。

“他们把我们大多数人关注的事情视为一种可以激励自己的方面，告诉自己‘讨厌，我想好好利用我的生活。如果在这个世界上我停留的时间比别人短，我不想去浪费这些，免得让自己后悔。’”

“我想好好利用我的生活！”

2011-07-04 07:07

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qjluo 编辑于 2011-07-04 12:47

• 临床要不要去做超声？超声科待遇怎么样？

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