Challenges for current thinking about autosomal dominant polycystic kidney disease
Recent research published in JASN uncovers an over-looked mechanism that likely contributes to this condition. The findings provide a better understanding of ADPKD and may lead to new strategies to treat it. Research indicates that the polycystin-2 protein in cells' endoplasmic reticulum is important for maintaining kidney health, and its lack can contribute to autosomal dominant polycystic kidney disease.
Loss of PC1 and PC2 in cilia is believed central to the pathogenesis of cyst formation that's a hallmark of Autosomal dominant polycystic kidney disease. PC1 and PC2 can be expressed in other locations, however, and it's unclear if these forms of the proteins are also important for preventing Autosomal dominant polycystic kidney disease.
To investigate, researchers examined the role of PC2 in the endoplasmic reticulum (ER), a structure within cells that's involved in protein and lipid synthesis. The team found that PC2 in the ER is important for maintaining kidney health and that its loss can lead to cyst formation.
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