When it comes to cholesterol and heart health, we’ve heard from our doctors over recent years how it’s important to have low levels of LDL, or “bad” cholesterol, and high levels of HDL, or “good” cholesterol.
But for one man, “good” wasn’t good enough, and that finding could someday change how doctors treat high cholesterol.
Forty-one-year-old Marcus Wright eats right and he’s been active his whole life. But at age 27, after finishing a long run, he felt pressure in his chest. When it didn’t go away, he drove himself to the hospital. After a quick test, even the ER doctor was shocked.
“He was like, ‘Dude, you’re having a heart attack.’ And I’m like, ‘Stop playing ‘cause I’m literally talking to you,” Wright remembers.
Sara Koenig, a researcher at The Ohio State, and her colleagues have identified a rare genetic mutation that affects how so-called “good” cholesterol works in the body.
“We did whole genome sequencing and identified variants in the gene SCARB 1,” Koening said.
The researchers asked Wright if they could test his DNA and he agreed.
“This specific gene mutation that he has resulted in, basically, a non-functional good cholesterol. So, even though it was there, it wasn’t doing its job,” Koenig said.
Koenig and her colleagues are now screening hundreds of existing drugs to see if any might work as a therapy for people with the gene mutation. in the meantime, Wright is proud of the role he’s playing in the study of genes and cholesterol.
“If my situation helps them in the future, it is all worth it,” Wright said.
Researchers said that despite Wright’s advanced disease, it’s very unlikely he passed on the genetic mutation to his children, which Wright said is a huge relief. Wright had three stents to keep his arteries open, and they remain in place.