Pkd1 and Pkd2 are required for normal placental development.

ABSTRACT: Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of inherited renal failure that results from mutations in PKD1 and PKD2. The disorder is characterized by focal cyst formation that involves somatic mutation of the wild type allele in a large fraction of cysts. Consistent with a two-hit mechanism, mice that are homozygous for inactivating mutations of either Pkd1 or Pkd2 develop cystic kidneys, edema and hemorrhage and typically die in midgestation. Cystic kidney disease is unlikely to be the cause of fetal loss since renal function is not required to complete gestation. One hypothesis is that embryonic demise is due to leaky vessels or cardiac pathology. In these studies we used a series of genetically modified Pkd1 and Pkd2 murine models to investigate the cause of e

SUBMITTER: Garcia-Gonzalez MA 

PROVIDER: S-EPMC2940908 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature