NEW YORK (Reuters Health) - Mutations in a gene for a cation channel protein appear to account for some cases of focal and segmental glomerulosclerosis (FSGS), according to a report in the May 5th issue of Sciencexpress. This protein could represent a novel target for therapeutic intervention.
“About 20% of patients who are on dialysis have FSGS, either idiopathic or familial,” lead author Dr. Michelle P. Winn, from Duke University Medical Center in Durham, North Carolina, told Reuters Health.
Previous studies investigating the pathogenesis of glomerular diseases, like FSGS, have focused on cytoskeletal and structural proteins, Dr. Winn noted. “What’s exciting about our study is that we linked an ion channel, called TRPC6, to the disease.”
“TRPC6 is a cation channel that allows calcium into kidney cells,” she explained. “With the mutation we identified, TRPC6 stays on the plasma membrane and allows uninterrupted calcium influx. We believe that this influx leads to apoptosis of the cell, but that remains to be determined.”
Dr. Winn’s team identified TRPC6 as a key player in FSGS after conducting a genomic screen on members of a family with hereditary FSGS. This screen narrowed the disease region to chromosome 11q and further analysis implicated TRPC6 directly.
“At this point, we don’t know what percentage of FSGS cases involve a TRPC6 mutation,” Dr. Winn noted. “We’re hopeful that our findings will also apply to patients with sporadic forms of the disease.”
She said her group is currently developing murine models of FSGS with TRPC6 mutations and “we’ll be looking at drug targets as well.”
Source: Sciencexpress 2005. [ Google search on this article ]
MeSH Headings:Ion Channels: Membrane Glycoproteins: Membrane Proteins: Calcium ChannelsCopyright © 2002 Reuters Limited. All rights reserved. Republication or redistribution of Reuters content, including by framing or similar means, is expressly prohibited without the prior written consent of Reuters. Reuters shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon. Reuters and the Reuters sphere logo are registered trademarks and trademarks of the Reuters group of companies around the world.
