VOA健康报道2022--男孩如何帮助科学家了解自闭症

How a Boy Helps Scientists Learn about Autism

From VOA Learning English, this is the Health & Lifestyle report.

As a 16-year-old boy looked closely at a mouse, it ran around an enclosed area in a laboratory. "Hi, Jakob 1. I'm Jake."

Jake Litvag named the mouse, but they share more than just names. Scientists genetically³ engineered Jakob, the mouse, to be similar to Jake in one important genetic² way.

That mouse and its relatives are the first in the world to have the same missing gene¹ that scientists say may cause Jake's condition -- autism.

Scientists at Washington University in St. Louis raised the mice from stem cells that came from Jake's blood. They wanted to study his condition.

Jake's parents, Joe and Lisa Litvag, visited the laboratory back in December 2021. They thought that meeting the scientists – and the mice – would help Jake understand his important part in the research. He now considers autism something to be proud of rather than something that makes him different from others.

"Oh wow. Cool!" Jake said as he watched the research mice. Walking out of the lab, Lisa Litvag cried as she thought about her son's cells helping⁴ others.

After meeting the mice, the family visited another lab, where Jake looked through a microscope at his own stem cells.

"That's me! That's cool stuff. I never saw anything like that in my life," Jake said, as his dad pulled him close.

Jake's father Joe Litvag told the Associated Press that he and his family are "deeply proud" to be part of the research. He added, "What do we live this life for? It's ultimately to try to -- in one way, shape or form -- be of service to others."

Autism in children

Autism starts in childhood and leads to problems forming relationships and communicating with others. Autism disorders⁶ include a large group of conditions. The abilities and needs of people with autism can also be very different. Some people with autism can live independently. Others have severe disabilities and require life-long care and support.

The AP reports that one in 44 children in the United States has an autism spectrum⁷ disorder⁵ (ASD). On its website, the World Health Organization says that worldwide that number is about one in 160 children.

The Litvags saw early on that Jake was not developing the same as other children. He could not walk without help until he was four. He struggled to speak complete sentences in first grade.

At first, no one knew why. Jake had a mix of different qualities. He had difficulty calming down and controlling his reactions. But he was also social and funny. He was five years old when doctors said he had autism. Then, the Litvags heard that an expert on the genetics of autism was giving a talk at the Saint Louis Science Center. There, they met Dr. John Constantino who began seeing Jake as a patient.

About five years later, Constantino proposed genetic testing. The testing found the missing copy of the MYT1L gene. This gene is believed to cause one out of every 10,000 to 50,000 autism cases.

The finding brought the family peace. They had heard that autism had other causes, like difficulties during birth. Lisa Litvag said, "For a long time, I thought it was something that I did."

Joe Litvag said that his family came to understand that they did not do anything wrong. "It's just that people are born all the time" with genetic differences, he said.

A large multinational⁸ study that appeared in JAMA Psychiatry⁹ in 2019 estimated that up to 80 percent of the risk for autism comes from genetics.

Jake's mother said she never wanted her son to feel badly about his condition. She added that the family continues to support the idea that, because of his autism, he has important gifts to share.

Gifts to give

When Constantino suggested studying the MYT1L gene, the Litvags happily agreed. To start the research, Jake's family raised about $70,000 from family and friends. Scientists then were able to turn that money into $4 million in research aid from the National Institutes of Health.

Researcher Kristen Kroll and her team reprogrammed cells from Jake's blood into stem cells. These special cells can create different kinds of cells in the body. Scientist Joseph Dougherty and his team used Jake's genetic information. They reproduced Jake's genetic mutation¹⁰ in the mice. To do this, they used the gene-editing tool CRISPR.

Since starting the research about three years ago, scientists have raised around 100 mice with Jake's mutation. They are now using the great-great grandchildren of the first mouse they engineered. They recently published their research with mice in Neuron.

A gift in return

Dougherty and his team said they hope their research on MYT1L will lead to treatments to improve or correct the problems the mutation causes.

They are sharing their findings with scientists studying other genes¹¹ related to autism. They are also trying to discover how different genes work together to cause the condition.

The Simons Foundation Autism Research Initiative says that more than 100 genes have strong evidence linking them to autism. It also says there are several hundred more genes thought to be linked.

Dougherty said understanding autism will require finding one or two things shared across different forms of the disorder. These could be targets for treatment. Although not everyone with autism wants treatment, Dougherty said it could help those who do.

Since the research began, Dougherty has been writing notes to the Litvags explaining the latest discoveries. But as a scientist, he is mostly removed from the people behind the research.

When the Litvag family visited the lab last December, Dougherty wanted to share some news in person. The missing gene does not seem to shorten life. The mice live two to three years, the same as their brothers and sisters.

Joe Litvag asked hopefully, "So, a normal life span?"

"Yes," Dougherty answered. As far as the researchers can see, the mice with Jake's genes live as long as the others.

Joe Litvag turned to his son. "So Jake, maybe you will live to be 100."

"I will be 112!" Jake said, smiling.

And that's the Health & Lifestyle report. I'm Anna Matteo. And I'm Dan Friedell.

Words in This Story

stem cell –n. a simple cell in the body that is able to develop into any one of many different kinds of cells (such as blood cells, skin cells, or other cells)

ultimately –adv. at the end of a process or period

proud –adj. very happy and pleased because of something you have done or something that you have

mutation – n. a permanent change in the genes of an organism

1 gene   

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   

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 genetically   

adv.遗传上

参考例句：

• All the bees in the colony are genetically related. 同一群体的蜜蜂都有亲缘关系。
• Genetically modified foods have already arrived on American dinner tables. 经基因改造加工过的食物已端上了美国人的餐桌。 来自英汉非文学 - 生命科学 - 基因与食物

4 helping   

n.食物的一份&adj.帮助人的，辅助的

参考例句：

• The poor children regularly pony up for a second helping of my hamburger. 那些可怜的孩子们总是要求我把我的汉堡包再给他们一份。
• By doing this, they may at times be helping to restore competition. 这样一来, 他在某些时候,有助于竞争的加强。

5 disorder   

n.紊乱，混乱；骚动，骚乱；疾病，失调

参考例句：

• When returning back,he discovered the room to be in disorder.回家后，他发现屋子里乱七八糟。
• It contained a vast number of letters in great disorder.里面七零八落地装着许多信件。

6 disorders   

n.混乱( disorder的名词复数 )；凌乱；骚乱；（身心、机能）失调

参考例句：

• Reports of anorexia and other eating disorders are on the increase. 据报告，厌食症和其他饮食方面的功能紊乱发生率正在不断增长。 来自《简明英汉词典》
• The announcement led to violent civil disorders. 这项宣布引起剧烈的骚乱。 来自《简明英汉词典》

7 spectrum   

n.谱，光谱，频谱；范围，幅度，系列

参考例句：

• This is a kind of atomic spectrum.这是一种原子光谱。
• We have known much of the constitution of the solar spectrum.关于太阳光谱的构成，我们已了解不少。

8 multinational   

adj.多国的，多种国籍的；n.多国籍公司，跨国公司

参考例句：

• The firm was taken over by a multinational consulting firm.这家公司被一个跨国咨询公司收购。
• He analyzed the relationship between multinational corporations and under-developed countries.他分析了跨国公司和不发达国家之间的关系。

9 psychiatry   

n.精神病学，精神病疗法

参考例句：

• The study appeared in the Amercian science Journal of Psychiatry.这个研究发表在美国精神病学的杂志上。
• A physician is someone who specializes in psychiatry.精神病专家是专门从事精神病治疗的人。

10 mutation   

n.变化，变异，转变

参考例句：

• People who have this mutation need less sleep than others.有这种突变的人需要的睡眠比其他人少。
• So far the discussion has centered entirely around mutation in the strict sense.到目前为止，严格来讲，讨论完全集中于围绕突变问题上。

11 genes   

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