When “Good” Cholesterol Isn’t Good Enough: Finding the Cause of Advanced Heart Disease

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.

Researcher at The Ohio State Sara Koenig, Ph.D., and her colleagues had 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,” says Koening.

The researchers asked Wright if they could test his DNA, and he agreed.

Koenig explains, “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 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 expressed.

Researchers say that despite Wright’s advanced disease, it’s very unlikely he passed on the genetic mutation to his children, which Wright says is a huge relief. Wright had three stents to keep his arteries open, and they remain in place.