| Theme | Dialysis and Cystic Renal Disease | |
|---|---|---|
| Title | Molecular basic of polycystic kidney disease | |
| Publish Date | 2002/05 | |
| Author | Tsuyoshi Yamamura | 2nd Dept. of Internal Medicine, Graduate School of Medicine, Hokkaido Univ. |
| Author | Toshio Mochizuki | 2nd Dept. of Internal Medicine, Graduate School of Medicine, Hokkaido Univ. |
| Author | Takao Koike | 2nd Dept. of Internal Medicine, Graduate School of Medicine, Hokkaido Univ. |
| [ Summary ] | Polycystic kidney disease is the most common hereditary renal disease, which is classified with autosomal dominant (ADPKD) and autosomal recessive (ARPKD) traits. ADPKD is caused by at least two mutations, at PKD1 on chromosome 16, and at PKD2 on chromosome 4. The function of the membrane proteins encoded by these genes, has been revealed gradually by recent studies and the discovery of homologous genes. Polycystin 1 is associated with cell proliferation and intracellular signaling pathways. Polycystin 2 is thought to be a cation-channel protein. Although little is known about the mechanism of cyst formation, acquired somatic mutation in renal tubular cells leading to inactivation of the function of Polycystin, that is, two hit hypothesis, is strongly suggested. Several regulatory factors associated with cyst formation are also studied. On the other hand, positional cloning of ARPKD is progressing towards identification of the responsible gene. |
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