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Di Feng

Beth Israel Deaconess Medical Center

There are strong connections joining high blood pressure, kidney disease, and diabetes. Many people suffer from all three chronic conditions. But Di Feng has found another link fusing them all to a rare genetic disease that makes certain kidney cells called podocytes so brittle they can’t do their job of properly filtering blood.

While a graduate student at the Medical College of Wisconsin, Feng discovered a genetic mutation associated with kidney injury and hypertension. She has now provided new insights into the mechanism associated with another gene that when mutated leads to chronic kidney disease. She was inspired to study kidney disease and hypertension because both illnesses affected members of her family.

The particular genetic defect she found modifies proteins in such a way that they stiffen the cytoskeleton, or the “bones,” of podocytes in the kidney. Then mechanical stress from the flow of blood leads to faulty filtering when the cell’s structural support founders.

Now an instructor at Beth Israel Deaconess Medical Center in Boston, Feng has connected that same kind of stress to damage triggered by high glucose.

“The cell skeleton is defective in a rare genetic disease, but it could also impact more common diseases, such as diabetes, which affects 50% of patients with chronic kidney disease,” she said.

“By studying the relevant pathway we could apply the knowledge from a rare genetic disease to more common diseases.”

To look more deeply, Feng is studying podocytes derived from patients’ stem cells. She’s also using organ-on-a-chip technology to better simulate the mechanical stresses that podocytes experience, in rare and common diseases. 

“We know that the primary cause of the rare kidney disease is the genetic mutation, so by studying the relevant pathway we could apply the knowledge from a rare genetic disease to more common diseases,” she said.

Elizabeth Cooney

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