| Autosomal dominant polycystic kidney disease(ADPKD) is a common monogenic hereditary disorder, characterized by renal tubular cysts. Progressive cyst formation and enlargement leads to loss of renal function, hypertension, and in ~50% of cases, end-stage renal disease by the age of 60 year. Extrarenal manifestations of ADPKD include cyst formation in the liver, pancreas, and spleen, as well as mesenchymal manifestations, such as mitral valve prolapse, colonic diverticulosis, and intracranial berry aneurysms. ADPKD is a genetically diverse entity caused bymutations of at least two distinct chromosomal loci-PKD1 andPKD2. PKD2 is located in 4q21-23 and encodes a 968-amino acid integral-membrane protein, polycystin-2. Polycystin-2, which is mutated in-15% of cases of ADPKD, contains six membrane spanning domains and intracellular COOH and NH2 termini.The pathogenesis mechanism of ADPKD is not clear. In order to discuss the pathogenesis mechanism of ADPKD, the expression of PKD2 and polycystin-2 were observed in human different tissues in this study .1.By in situ hybridization and RT-PCR, the expression of PKD2 was found in normal adult renal tissue, fetal renal tissue, thyroid tissue and blood vessel. But there were no expression in liver, pancreas, stomach, spleen, brain, small intestine and oesophagus. 2. By immunohistochemistry , immunofluorescence and western-blot, the staining of polycystin-2 was found in normal adult renal tissue, fetal renal tissue , cultured MDCK and LLC-PK1 cells, little staining in type 2 ADPKD renal tissue. Simultaneously , the staining of tubulin-α was also observed in these tissues and cells.3.the co-staining of polycystin-2 and tubulin- a were found in cilium of kidney cells. 4. the expression vector of polycystin -2 was constructed.The result shows that polycystin-2 has an important role in the proliferation and differentiation of renal tubule cell, and may have some role in the cause of autosomal dominant kidney disease (type 2).
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