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VOA健康报道2024--Study: Gene May Cause Alzheimer’s in Some Cases

时间:2024-06-13 06:41:17

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Study: Gene1 May Cause Alzheimer’s in Some Cases

For the first time, researchers have identified a genetic2 form of late-in-life Alzheimer’s disease.

Alzheimer’s is a disease of the brain that causes people to lose their memory and mental abilities as they grow old.

Scientists have long known a gene called APOE4 is one of the many things that can increase a person’s risk for Alzheimer’s.

One risk includes simply getting old; most Alzheimer’s cases appear after age 65. But new research suggests that a cause of the disease is carrying two copies of the APOE4 gene. People with two copies of APOE4 inherited the gene from both parents.

Those patients may experience signs of Alzheimer’s seven to 10 years sooner than other adults who develop Alzheimer’s, the research found.

Dr. Juan Fortea led the study. He is with the Sant Pau Reasearch Institute in Barcelona, Spain. He said the findings mark a difference with “profound3 implications.”

An estimated 15 percent of Alzheimer’s patients carry two copies of APOE4. Those cases “can be tracked back to a cause and the cause is in the genes4,” Fortea said.

Until now, genetic forms of Alzheimer’s were thought to be only kinds that appear at much younger ages. They were also thought to make up less than one percent of all cases.

Scientists say the new research shows the importance of developing treatments that target the APOE4 genes.

Dr. Reisa Sperling is with Harvard’s Brigham and Women’s Hospital in Boston. She helped write the study, which appeared recently in the publication Nature Medicine.

She said some doctors will not offer the only drug that has been shown to slow the disease, Leqembi, to people with the gene pair. She said that they are not offered the drug because those patients are at an especially high risk of developing a dangerous side effect.

Sperling studies ways to prevent or at least delay Alzheimer’s. She said, “This data for me says wow, what an important group to be able to go after before they become symptomatic.”

But the news does not mean people should race for a gene test. She told The Associated Press, “It’s important not to scare everyone who has a family history” of Alzheimer’s. She said the gene pair is not the cause of most cases of the disease.

How do genetics affect Alzheimer’s?

More than 6 million Americans, and millions more worldwide, have Alzheimer’s. Some genes are known to cause rare “early-onset forms.” This is where changes in the genes are passed through families that can cause symptoms to appear by age 50.

But Alzheimer’s most commonly appears after 65. Most cases begin after the age of 70. The APOE gene was known to play some part.

Most people carry the APOE3 gene that appears to neither increase nor decrease Alzheimer’s risk. Some carry APOE2, which provides some protection against Alzheimer’s.

APOE4 has long been called the biggest genetic risk factor for late-in-life Alzheimer’s, with two copies riskier5 than one. About two percent of the world’s population is estimated to have a copy of the gene from both parents.

Research points to a cause for a kind of Alzheimer’s

Fortea’s team used data from over 3,000 brains donated for research and from more than 10,000 people in U.S. and European Alzheimer’s studies. The team’s aim was to better understand genes’ role in Alzheimer’s. They examined symptoms and early signs of Alzheimer’s such as sticky amyloid in the brain.

Amyloid is a protein that can exist in different body parts, including the brain, with certain diseases.

The researchers found that people with two APOE4 copies were gaining more amyloid at age 55 than those with just one copy of APOE4. They were also gaining more amyloid than people who had the “neutral” APOE3 gene.

By age 65, brain imaging showed large amounts of harmful amyloid buildup in nearly 75 percent of individuals with two copies of APOE4. Those individuals were also more likely to have beginning Alzheimer’s symptoms by that age rather than later in life.

Sperling noted6 that not everyone with two APOE4 genes develops Alzheimer’s symptoms. Researchers hope to learn why.

How the new findings may affect Alzheimer’s research and treatment

The drug Leqembi works by clearing away some amyloid in patients’ brains. But Sperling said it is not clear if carriers of two APOE4 genes gain from taking the drug. That is because they have such a high risk of brain swelling7 and bleeding.

One research question is whether patients with two APOE4 genes should start such drugs sooner than other people.

Dr. Eliezer Masliah of the National Institute on Aging said other research aims to develop gene therapy or drugs that target APOE4. He said it is important to understand APOE4’s effects in different populations. So far, studies related to APOE4 have mostly involved white people of European ancestry8.

Words in This Story

profound – adj. very great

implications – n. a possible future effect or result

symptoms – n. a change in the body or mind which indicates that a disease is present

track – v. to follow and find (someone or something) especially by looking at evidence

factor – n. something that helps produce or influence a result

swelling – adj. something that helps produce or influence a result

therapy – n. the treatment of physical or mental illnesses


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1 gene WgKxx     
n.遗传因子,基因
参考例句:
  • A single gene may have many effects.单一基因可能具有很多种效应。
  • The targeting of gene therapy has been paid close attention.其中基因治疗的靶向性是值得密切关注的问题之一。
2 genetic PgIxp     
adj.遗传的,遗传学的
参考例句:
  • It's very difficult to treat genetic diseases.遗传性疾病治疗起来很困难。
  • Each daughter cell can receive a full complement of the genetic information.每个子细胞可以收到遗传信息的一个完全补偿物。
3 profound tQ2xY     
adj.深奥的,造诣深的;深度的,极度的
参考例句:
  • I give you my profound thanks for saving my life.我对您的救命之恩深表谢意。
  • He has a profound knowledge of mathematics.他数学知识渊博。
4 genes 01914f8eac35d7e14afa065217edd8c0     
n.基因( gene的名词复数 )
参考例句:
  • You have good genes from your parents, so you should live a long time. 你从父母那儿获得优良的基因,所以能够活得很长。 来自《简明英汉词典》
  • Differences will help to reveal the functions of the genes. 它们间的差异将会帮助我们揭开基因多种功能。 来自英汉非文学 - 生命科学 - 生物技术的世纪
5 riskier 4b337f01212613d2805f0ac853a3fd43     
冒险的,危险的( risky的比较级 )
参考例句:
  • Now they are starting to demand higher returns on riskier assets. 而今他们开始在风险更高的资产上要求更高的回报。
  • The problem with that: RIM's business is getting riskier every quarter. 不过问题也随之而来:RIM面临的业务风险正逐季增大。
6 noted 5n4zXc     
adj.著名的,知名的
参考例句:
  • The local hotel is noted for its good table.当地的那家酒店以餐食精美而著称。
  • Jim is noted for arriving late for work.吉姆上班迟到出了名。
7 swelling OUzzd     
n.肿胀
参考例句:
  • Use ice to reduce the swelling. 用冰敷消肿。
  • There is a marked swelling of the lymph nodes. 淋巴结处有明显的肿块。
8 ancestry BNvzf     
n.祖先,家世
参考例句:
  • Their ancestry settled the land in 1856.他们的祖辈1856年在这块土地上定居下来。
  • He is an American of French ancestry.他是法国血统的美国人。

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