Lipids model how to explore for unexpected diseases

It is not shocking to anyone that fat molecules are tied to heart conditions. Lipids, a term for fatty acids and their derivatives, are the subject of countless papers when it comes to cardiovascular disease. If you’re studying lipids, there’s a good chance you’re studying it in relation to people’s hearts and blood flow.

Outline of a human body with title What Diseases Could be Caused by Lipids, with arrows pointing to body parts listing various diseases.
Taking a step outside of conventional thinking may lead to new discoveries about diseases and treatments. (Image: Penn Medicine News)

But is that strong tie actually masking some of the other ties that lipids have to disease? Could it inadvertently blind some researchers and scientists to possibly being the cause of other diseases, such as gout?

A new analysis of genetic information available in biobanks led by researchers at the Perelman School of Medicine raises that question. When they analyzed data from the biobanks—which contain deidentified information such as DNA and disease diagnoses from thousands of real patients—the researchers found genetic links to conditions like gout, as well as digestive disorders and local infections of skin and adipose (fat) tissue. These links to lipids could, potentially, be the causes of these conditions.

“We developed an efficient framework to not only identify robustly replicating lipid genes and visualize their associations with hundreds of complex diseases from electronic health records, but to also examine whether lipids should be explored as potential causal exposures for some diseases,” says Yogasudha Veturi, a postdoctoral researcher in the Penn Medicine department of Genetics, as well as the lead author of a paper published on this analysis in Nature Genetics.

In that way, this research shows a path toward expanding the science behind disease. For example, if you performed a New England Journal of Medicine keyword search right now looking for both “gout” and “lipid,” it would return 72 results, with the top articles still focusing on cardiovascular diseases and the cardiovascular effects of treatment for patients with gout.

“Of course, lipids’ effects on cardiovascular disease are hugely important and should continue to be studied extensively,” says senior author Marylyn Ritchie, director of the Center for Translational Bioinformatics and a professor of genetics. “But we hope that by exposing the wide range of effects, and potential causes that lipids could have, there’s more research done on these less-understood areas. Hopefully, it leads to some breakthroughs and future drug development.”

The whole point of the process is to get a better look at the contributing parts and take a step outside the conventional thinking to maybe discover something new.

This story is by Frank Otto. Read more at Penn Medicine News.