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Headway is made on averting renal cysts

Medicine@Yale, 2019 - November December


Yale researchers have discovered how the polycystin 2 (PC2) gene alters the energy status of cells when PC2 is mutated to cause autosomal dominant polycystic kidney disease (ADPKD), an inherited condition with no cure.

Barbara Ehrlich, PhD, professor of pharmacology and of cellular and molecular physiology, and colleagues used high resolution microscopy as well as animal models to study the impact of PC2 mutations on mitochondria, which generate cellular energy.

They discovered that PC2 normally acts to limit the physical interactions between the mitochondria and endoplasmic reticulum (ER)—another cellular organelle where proteins are produced and modified. When PC2 is mutated, the team reported May 7 in Science Signaling, interactions between the ER and mitochondria increase.

This leads to more signaling on the surface of the mitochondria, more energy production, more mitochondria, and—in response to the increased energy—proliferation of kidney cells to form harmful cysts. Blocking the excess energy production in mitochondria, Ehrlich and her colleagues found, stopped the production of new cells in cysts.