Albert Einstein College of Medicine other research news

Researchers reported the discovery of a second gene associated with autosomal dominant polycystic kidney disease (ADPKD). PKD, the most common of all life-threatening genetic diseases, causes the development of fluid-filled cysts in the kidney that enlarge and can lead to renal failure.

As reported in Science, PKD2 is located on chromosome 4. Mutations in the gene account for 15 percent of families affected by ADPKD. The PKD2 protein has amino acid similarity with PKD1, the other gene believed to be responsible for the disorder. It is also similar to the family of voltage-activated calcium and sodium channels, and it contains a potential calcium-binding domain. ...