A story until a woman suffering from an intractable disease of muscle weakness reads a paper on her own and discovers ``a genetic mutation common to the Olympic track and field bronze medalist''
People with illnesses tend to be naturally knowledgeable about their illnesses, but not many people read scientific papers and accumulate expertise. However, a woman named Jill Viles, who lives in the United States, was suffering from an intractable disease that weakened her muscles and made it difficult for her to even walk. ... apparently ...
The DIY Scientist, the Olympian, and the Mutated Gene — ProPublica
Mr. Viles, who was born in 1974, had a very thin body from an early age, and by the time he was 3 years old, he could not support his body and was stuck in the toilet and fell frequently. Mr. Viles' father also had very thin legs and he said he often fell when he was a child, but Mr. Viles' condition was much more pronounced. However, although doctors suspected that the Viles family had some kind of muscular dystrophy that caused muscle weakness, they could not determine what type of muscular dystrophy it was.
As he grew up, Mr. Viles fell less and grew to the same height as other children, but he had no fat on his limbs and had a very thin body. At that time, I was examined by a doctor every summer, but after all the doctor was unable to identify the cause. Still, it seems that Mr. Viles was able to play like other children until around the age of 12. But finally, at the age of 12, his muscles started to fail and he could no longer ride a bike or balance on roller skates.
Below is a photo of 11-year-old Mr. Viles. You can see that the limbs are very slender and have little fat or muscle.
Mr. Viles was about 160 cm tall when he entered college, but his limbs were still thin and his weight was only about 40 kg at maximum. In college, I spent more time in the university library than I did in class, sifting through textbooks and scientific journals on muscle diseases 25 hours a week. Then, in a paper about the disease '
The paper also described a condition called joint contracture , in which patients with Emery-Dreyfuss muscular dystrophy are characterized by the inability to place the chin on the chest, touch the heel to the floor, or straighten the elbow. All of these characteristics apply to Mr. Viles himself, and the paper also notes that patients with Emery-Dreifuss muscular dystrophy are more likely to develop heart disease, so Mr. Viles felt the need to investigate further. He said he took the book home.
Mr. Viles, who didn't want to scare his family, didn't read the paper in a place where people were, but one day his father read the paper while Mr. Viles was cooking popcorn in the kitchen. The father confided that he had all the characteristics of an Emery-Dreyfuss muscular dystrophy patient, and that several years ago a doctor had pointed out that he had an arrhythmia in his heart. Doctors at the time thought the arrhythmia was probably caused by a virus, but Mr. Viles was convinced that his father's arrhythmia was due to Emery-Dreifuss muscular dystrophy and managed to persuade a cardiologist to see him.
As a result of tracking heart activity over the course of a day, it was found that the father's heart rate could drop to 20 in a minute, and surgery was immediately performed to embed a pacemaker. Viles' mother, Mary, said, 'Jill saved her father's life. How would you know this without her?'
But cardiologists still couldn't confirm that Mr. Viles had Emery-Dreifuss muscular dystrophy in his family, and even when Mr. Viles contacted a neurologist with his own findings, they didn't believe him. bottom. According to Viles, the neurologist sternly said, 'No, you don't have Emery-Dreifuss muscular dystrophy,' and refused to look at the documents. At the time, most doctors believed that Emery-Dreyfuss muscular dystrophy only affects men, and the fact that Viles, who was still a teenager, self-reported it was an obstacle to gaining credibility.
Still not giving up, Mr. Viles sent a letter with a photo of his body to an Italian research team investigating Emery-Dreifuss muscular dystrophy. The research team was struggling to find a family of Emery-Dreyfuss type muscular dystrophy, so he immediately asked if he could send the DNA or blood of the whole family. Mr. Viles asked a nurse friend to obtain a blood collection kit and sent it to Italy.
Genetic analysis took a long time with testing technology in the 1990s, but four years later, in 1999, we finally got an answer. As a result, all families with Emery-Dreyfuss muscular dystrophy had genetic mutations in the
Mr. Viles was then invited to an internship
Mr. Viles attended a conference at Johns Hopkins University and explained that he and his family had very thin limbs and possibly lipodystrophy. But Emery-Dreifuss muscular dystrophy alone probably affects less than one in a million people, and lipodystrophy is an even rarer disease, so doctors don't believe Mr. Viles' claims. He said. Mr. Viles at that time also trusted experts, so I decided to withdraw this theory.
Later, stressed by reading too much medical literature, Mr. Viles decided to leave medical research and started working at a community college as a writing instructor. Eventually, she married a man named Jeremy Viles and had a son, but after giving birth, she lost her ability to walk, so she lived on an electric scooter. Mr. Viles' father also lost the ability to walk at the same time and died at the age of 63.
A few days after his father's funeral, Mr. Viles was shown a picture hit by Google image search from his sister. My sister has always been concerned about the visibility of her arm muscles, and several years ago Mr. Viles said, 'It may be lipodystrophy, but doctors at Johns Hopkins University ruled it out.' However, even after that, my sister was worried about lipodystrophy. His sister showed Viles a photo of Priscilla Lopez-Schliep , a Canadian sprinter and bronze medalist in the women's 100m hurdles at the 2008 Beijing Olympics.
The picture below compares the bodies of Mr. Lopez-Schriep (left) and Mr. Viles (right). It's difficult to imagine a connection from the way the muscles are attached, but Mr. Viles used Google image search to examine various photos of Mr. He said he was convinced that the family had the same genetic mutation. And I thought that the reason Lopez-Schliep has so much muscle and Mr. Viles has almost no muscle is that Lopez-Schliep's body somehow avoids muscular dystrophy.
However, Mr. Viles did not have the means to contact Mr. Lopez-Schriep, so a year passed without being able to do anything. One day, when he saw journalist David Epstein talking about the genes of athletes on TV, Mr. Viles said, 'There is a common genetic mutation between myself and Mr. ' and 'athletics bronze medalists' may have created the difference.'
Mr. Epstein was skeptical at first, but as he read the report, he noticed that Mr. Viles had very good scientific knowledge and theory, and contacted Lopez-Schriep's agent who was connected on Twitter. Lopez-Schliep is so muscular that some media outlets suspect he's on steroids, a suspicion his agents may be able to clear up if true. He said he didn't think so.
Lopez-Schliep was also confused at first when he was told that a woman in Iowa with muscular dystrophy had the same genetic mutation as you, but after talking on the phone and reading Mr. Viles' report Over time, I've grown to trust them. Mr. Lopez-Schliep was particularly fascinated by the episode in the report, ``When I was a child, I was teased by my classmates because the veins on my legs were sticking out.'' It sounds like you had the same experience.
And eight months after Mr. Epstein's introduction, Mr. Viles and Mr. Lopez-Schriep finally met. Mr. Viles, who recalled that time, said that he thought, 'Oh my God, it's like meeting a family.' Mr. Lopez-Schriep seems to have had a similar impression, saying, 'It was a really amazing moment.' The two immediately went to the corner of the hallway and showed each other parts of the body, and Mr. Viles handed Mr. Lopez-Schriep a check and appealed to receive a genetic test with it.
After being turned down by several doctors for genetic testing, Lopez-Schliep approached Dr. Abhimanyu Garg of the University of Texas Southwestern Medical Center, a leading expert on lipodystrophy, to discuss genes and lipodystrophy. I'm going to have an inspection done. As a result, it turned out that Mr. Lopez-Schriep is indeed lipodystrophic and has the same lamin gene mutation as Mr. Viles. However, the place where Mr. Lopez-Schriep's genetic mutation is slightly different from Mr. Viles, and due to the difference, Mr. Viles has almost no muscles, and Mr. Lopez-Schriep has great muscles.
In addition, Mr. Lopez-Schriep was found to have three times the normal level of blood fat due to lipodystrophy, and was immediately hospitalized and treated. As a result, Mr. Lopez-Schriep was saved from a dangerous situation and said that he called Mr. Viles and thanked him. 'It's understandable that patients want to learn more about their illness,' Dr. Garg commented, 'but reaching out to someone else and solving their problems is an amazing feat.'
Mr. Viles remained interested in the factors that separated him from Mr. López-Schliep, and while reading the scientific literature, he noticed the work of a molecular biologist named Etienne Lefay of France. Refai's research is about SREBP1, a protein that regulates fat storage, and found that accumulation of SREBP1 in cells leads to extreme muscle atrophy or extreme muscle growth.
Intrigued by the results of the study, Mr. Viles sent Mr. Refai a short question by email, and Mr. Refay replied, thinking it was from another researcher or a doctoral student. After that, Mr. Viles explained that he himself has Emery-Dreifuss type muscular dystrophy, that he has the same lamin gene mutation as Mr. Lopez-Schriep, and that both have lipodystrophy. And he seems to have conveyed the idea that 'SREBP1 may interact with the lamin gene?'
“Yes, this was a great question that caused some reflection on my part, because until Mr. Viles reached out to me, I had no idea what I could do in the genetic disease space. , I changed the course of the team, ”commented. After contacting Mr. Viles, Mr. Refai discovered that the lamin protein produced by the lamin gene interacts with SREBP1, and is conducting research on the effects of mutations in the lamin gene on the function of SREBP1 and muscle loss.
Mr. Viles tells Mr. Epstein that he will withdraw from medical research because he wants to cherish his time with his family. However, Mr. Viles' mother and Mr. Refai believe that Mr. Viles will eventually resume medical research, and Mr. Epstein also thinks so.
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