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鉴定出罕见遗传性疾病的新病例

来源:生物谷 2012-02-14 11:41

利物普大学的科学家与国际伙伴一起合作已经揭示一种罕见的遗传性疾病,该疾病导致脊柱与主要关节中的致残性的骨关节炎,它在全世界范围内的普遍性远远高于我们以前所认为的。

在韦洛尔、印度的一个小社区内,研究人员已经鉴定出称为黑尿症(即内源性褐黄病,AKU)疾病超过100例的新病例,这使这里的此种疾病患者的总人数达到130。约40例病人在南约旦的一个村庄中被发现有,但是这个区域内的医护人员以前还不知道这种疾病。2003年英国只有4例已知病例,但整个国家的患者人数已上升到80例以上。

研究发现表明,还需要做更多的工作来提高这一疾病在世界各国的描述,以便于能被医务人员正确地鉴定。认为全世界25万人中有一人受影响,但是许多是未诊断或误诊为骨关节炎。

利物浦的科学家们将与国际研究人员一起作为AKU学会的一部分来建立一个有助于进一步了解社区内和医疗实践中情况的全球网络。AKU学会于2003年在利物浦成立,支持被诊断为此疾病的患者。

正接受AKU治疗的患者没有足够的尿酸氧化酶,这使酸在体内积聚。一部分这种酸在尿中被清除,而其余部分则沉着在人体组织,它在沉着的部位是有毒的。因此,一种称为褐黄病的黑色素形成并结合到骨、软骨和皮肤上。这可能会导致软骨侵蚀,患者往往进行关节置换手术。

皇家利物浦大学医院临床医师、利物浦大学老化和慢性疾病研究所研究人员Lakshminarayan Ranganath博士说:"AKU是第一个被科学家确定的遗传疾病。它在1902年被一名英国医生所描述,但是100多年后,还没有一个疾病的治愈方法。一种候选药物最近已确定,正在等待临床试验来看看是否可用来治疗AKU病人。我们想要确定尽可能多的患此病的人以能确保这些继续的重要试验。

"在印度和约旦的最近调查结果告诉我们,这种疾病比目前统计数据所有显示的更为普遍,我们迫切需要全世界医疗实践中所得出的研究,以至病例能被正确地识别和诊断。我们想要扩大我们的国际联系,也为年轻研究人员探寻发展我们这种疾病的知识提供公共卫生博士的机会。

利物浦大学老化和慢性疾病研究所研究人员James Gallagher教授说:"我们目前正在努力理解吸附于关节软骨的黑色素为什么只吸附特定区域,同时,关切软骨其他部分仍保持无色素。如果我们能够理解色素在人体内如何结合的机制,我们就可能防止疾病发展"。

印度韦洛尔基督教医学院矫形外科教授Isaac Jebaraj说:"我的工作集中在南印度罗马尼亚人社区,在那里我们已发现大约100例AKU患者。重要的是我们要到达这些社区,因为传统上他们不去医院看病,而更喜欢使用草药和油脂。象这样,我们预计印度有很多人患这种还未被诊断出的疾病。

"我们现在已经用抗炎药物治疗了许多社区病人,一些人还做了关节置换手术。为了确保潜在的新治疗方法能到达这些社区,重要的是科学家们一起努力来推进药物试验。"

AKU学会是由大彩票基金会支持的。(生物谷bioon.com)

New Cases of Rare Genetic Disorder Identified

sciencedaily/Feb. 13, 2012

Scientists at the University of Liverpool, working with international partners, have shown a rare genetic disease, that causes crippling osteoarthritis in the spine and major joints, is far more prevalent worldwide than previously thought.

Researchers have identified more than 100 new cases of the disease, called alkaptonuria (AKU) in a small community in Vellore, India, bringing the total number of patients there to 130. Approximately 40 patients have been found in a village in Southern Jordan, but previously the disease had been unknown to healthcare workers in the region. There were only four known cases in the UK in 2003, but this has since risen to more than 80 patients across the country.

Research findings suggest that more work is needed to raise the profile of the disease in countries around the world so that it can be correctly identified by medics. It is thought to affect one in 250,000 people worldwide, but many remain undiagnosed or mis-diagnosed as osteoarthritis.

Scientists at Liverpool are bringing international researchers together as part of the AKU Society to establish a global network that will help further understanding of the condition within communities and healthcare practices. The AKU Society was established in Liverpool in 2003 and supports patients diagnosed with the disease.

Patients being treated for AKU do not have enough of the enzyme, homogentisic acid oxidase, which causes acid to build up in the body. Some of this acid is eliminated in the urine, but the remainder is deposited in body tissue where it is toxic. As a result, a black pigment, called ochronosis, forms and binds to bone, cartilage and skin. This can cause erosion of the cartilage and patients often have to undergo joint replacement surgery.

Dr Lakshminarayan Ranganath, researcher at the University's Institute of Ageing and Chronic Disease and clinician at the Royal Liverpool University Hospital, said: "AKU was the first genetic disease to be identified by scientists. It was described in 1902 by an English physician, but more than 100 years later there is still no cure for the disease. A drug candidate has recently been identified and is awaiting clinical trials to see if it could be used to treat AKU patients. We want to identify as many people with the condition as possible to ensure these important trials go ahead.

"Recent findings in India and Jordan show us that this disease is more prevalent than current statistics suggest and we urgently need to get research out into healthcare practices around the world so that cases can be identified and diagnosed correctly. We want to expand our international links as well as promote PhD opportunities to young researchers looking to progress our knowledge of the disease.

Professor James Gallagher, AKU researcher at the University's Institute of Ageing and Chronic Disease, said: "We are currently working to understand why the black pigment that attaches itself to joint cartilage only attaches to certain areas, whilst other sections of cartilage remain pigment-free. If we can understand the mechanisms of how the pigment binds in the body then we may be able to prevent the disease developing."

Isaac Jebaraj, Professor of Orthopaedic Surgery at the Christian Medical College, Vellore, India, said: "My work is focused on a Romani Community in South India, where we have identified approximately 100 cases of AKU. It is important for us to reach these communities as traditionally they do not attend hospitals for aliments, preferring to use herbs and oils instead. As such we anticipate that there are many more people in India with this condition that have yet to be diagnosed with the condition.

"We have now treated many of the community with anti-inflammatory drugs and some have had surgery for joint replacement. To ensure that potential new treatments reach these communities, it is important that scientists work together to progress with drug trials."

The AKU Society is supported by the Big Lottery Fund.

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