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【medical-news】阿尔茨海默病基因增加新生儿脑瘫风险

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Alzheimer's gene raises newborns' cerebral palsy risk

CHICAGO --- Apolipoprotein E (APOE), a gene associated with heightened risk for Alzheimer's disease in adults, can also increase the likelihood that brain-injured newborns will develop cerebral palsy, researchers at Children's Memorial Research Center have discovered.

This is the first identification of a gene that increases susceptibility to cerebral palsy. Results of the study, published in the February issue of the journal Pediatrics, may enable early identification of children who are at risk for poor neuro-developmental outcome after brain injury as newborns and thus target those children for early therapeutic intervention.

The lead scientist on the study was Mark S. Wainwright, M.D., Ph.D., assistant professor of pediatrics (neurology) and molecular pharmacology and biological chemistry at Northwestern University's Feinberg School of Medicine and the Children's Memorial Research Center. Wainwright is also a researcher in the Center for Drug Discovery and Chemical Biology at Feinberg.

Wainwright and his laboratory group compared APOE genotypes in 209 children with cerebral palsy and a matched control group of children in good health. They found that children who carry the E4 or the E2 form (or allele) of the APOE gene are not only more likely to develop cerebral palsy but also to have more severe neurologic impairment following perinatal brain injury, just as adults who carry the E4 form of the APOE gene may be more susceptible to developing Alzheimer's disease and have worse outcome after brain injury, including stroke and head injury.

Overall findings from the study showed that carrying the E4 allele was associated with greater than a threefold-elevated risk for cerebral palsy. The risk was higher for children with quadriplegia/triplegia and was associated with more severe motor impairment in this group.

Cerebral palsy affects two in every 1,000 school-aged children in the United States, has an annual economic toll on society estimated at $5 billion and is the most costly of the clinically significant birth defects in the United States.

Cerebral palsy encompasses a diverse group of disorders characterized by non-progressive impairment of motor function resulting from injury to the developing brain. Cerebral palsy is often associated with impaired intellectual function, sensory deficits, behavioral disorders and seizures. In the majority of cases, a specific cause for cerebral palsy cannot be identified.

The protein apoE that is coded by the APOE gene is produced in the brain, where it plays multiple roles, including protecting against injury. Wainwright said that the contribution of the APOE gene to susceptibility to neurologic injury might vary with age and the nature of the brain injury.

"People who carry the E4 allele may not be able to recover as effectively from a brain injury, making these newborns at greater risk for developing cerebral palsy," he said.

Wainwright hopes to conduct additional studies to confirm these findings in other populations and to evaluate the role of the apoE protein in specific biochemical pathways in the brain for development of cerebral palsy after perinatal brain injury.

http://www.eurekalert.org/pub_releases/2007-02/nu-agr020207.php

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2007-02-05 13:16 浏览 : 710 回复 : 4

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2007-02-05 13:22

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• 为啥突然加大难度？

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2007-02-05 19:26

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Alzheimer's gene raises newborns' cerebral palsy risk
阿尔茨海默病基因增加新生儿脑瘫风险

CHICAGO --- Apolipoprotein E (APOE), a gene associated with heightened risk for Alzheimer's disease in adults, can also increase the likelihood that brain-injured newborns will develop cerebral palsy, researchers at Children's Memorial Research Center have discovered.
芝加哥儿童记忆研究中心的研究人员发现，一种可以增加成人阿尔茨海默病患病风险的载脂蛋白E基因(APOE)，可能会增加新生儿脑损伤发展成为脑瘫的可能性。

This is the first identification of a gene that increases susceptibility to cerebral palsy. Results of the study, published in the February issue of the journal Pediatrics, may enable early identification of children who are at risk for poor neuro-developmental outcome after brain injury as newborns and thus target those children for early therapeutic intervention.
这是第一次证实一种基因会增加脑瘫的患病几率。刊登在二月份《儿科杂志》期刊上的这一结果，可能会帮助鉴定那些新生儿期脑损伤的儿童神经发育迟缓，并针对那些儿童进行对症治疗。

The lead scientist on the study was Mark S. Wainwright, M.D., Ph.D., assistant professor of pediatrics (neurology) and molecular pharmacology and biological chemistry at Northwestern University's Feinberg School of Medicine and the Children's Memorial Research Center. Wainwright is also a researcher in the Center for Drug Discovery and Chemical Biology at Feinberg.
西北大学Feinberg医学院和儿童记忆研究中心的儿科神经学、分子药理学生化学副教授Mark S. Wainwright博士是这一研究的领导者，同时他也是Feinberg医学院新药开发和化学生物学中心的研究人员。

Wainwright and his laboratory group compared APOE genotypes in 209 children with cerebral palsy and a matched control group of children in good health. They found that children who carry the E4 or the E2 form (or allele) of the APOE gene are not only more likely to develop cerebral palsy but also to have more severe neurologic impairment following perinatal brain injury, just as adults who carry the E4 form of the APOE gene may be more susceptible to developing Alzheimer's disease and have worse outcome after brain injury, including stroke and head injury.
Wainwright及其同事比较了209名大脑损伤的儿童与相同数量的健康儿童的APOE基因情况。他们发现，那些带有E4或E2类型APOE等位基因的围产期脑损伤儿童不仅更有可能发展成为脑瘫，而且会有更严重的神经损害。这一特点与成人结果一致，具有E4类型APOE等位基因的成人会更容易发生阿尔茨海默病，并且中风或者脑损伤后后果更严重。

Overall findings from the study showed that carrying the E4 allele was associated with greater than a threefold-elevated risk for cerebral palsy. The risk was higher for children with quadriplegia/triplegia and was associated with more severe motor impairment in this group.
研究结果显示，具有E4等位基因发生脑瘫的几率升高3倍。这种风险与严重运动神经损伤有关，会导致儿童四肢瘫痪/三肢瘫痪发生。

Cerebral palsy affects two in every 1,000 school-aged children in the United States, has an annual economic toll on society estimated at $5 billion and is the most costly of the clinically significant birth defects in the United States.
美国学龄儿童中有千分之二受脑瘫的影响，这些脑瘫每年花费50亿美元费用，是美国花费最严重的出生缺陷。

Cerebral palsy encompasses a diverse group of disorders characterized by non-progressive impairment of motor function resulting from injury to the developing brain. Cerebral palsy is often associated with impaired intellectual function, sensory deficits, behavioral disorders and seizures. In the majority of cases, a specific cause for cerebral palsy cannot be identified.
脑瘫有各种不同的功能失调症状，都是由于脑部神经受损导致的运动功能丧失。脑瘫同时伴有智力低下、感觉丧失、运动失调或者不足等症状。在大多数病例中，脑瘫的起因并不能确认。

The protein apoE that is coded by the APOE gene is produced in the brain, where it plays multiple roles, including protecting against injury. Wainwright said that the contribution of the APOE gene to susceptibility to neurologic injury might vary with age and the nature of the brain injury.
APOE基因编码的apoE蛋白在大脑生成，具有包括保护大脑不受伤害的多种功能。Wainwright说APOE基因对于神经损伤的保护功能与年龄和脑损伤情况有关。

"People who carry the E4 allele may not be able to recover as effectively from a brain injury, making these newborns at greater risk for developing cerebral palsy," he said.
他说：“具有E4等位基因的人可能很难从脑部损伤充分恢复健康，并可能会使新生儿具有发展脑瘫的更大风险。”

Wainwright hopes to conduct additional studies to confirm these findings in other populations and to evaluate the role of the apoE protein in specific biochemical pathways in the brain for development of cerebral palsy after perinatal brain injury.
Wainwright希望进行另外的研究以在其它人群中确认这一发现，并且评估脑内特定生化通道中apoE蛋白在脑部损伤后发展成为脑瘫过程中的作用。

http://www.eurekalert.org/pub_releases/2007-02/nu-agr020207.php

2007-02-06 14:29

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