Research on CEP290 continues to thrive, and knowledge on its function is pouring in. The latest findings are summarized in a paper by Betleja & Cole, just published in Current Biology. They discuss the most recent discovery, reported by Craige et al in an article published in September in the Journal of Cell Biology, which indicates the role of CEP290 as a gatekeeper within the cell. Basically, it will determine which substances can transfer between the inner and outer regions of the cell. When the gene is mutated, the correct transfer of proteins is disrupted, so that abnormal accumulation of certain proteins and reduction of others can occur. It is likely that different CEP290 mutations will disrupt the transport of different proteins, thus explaining the large spectrum of disorders associated with CEP290 (from isolated blindness to complex syndromes affecting multiple organs).
Craige et al also showed that CEP290 is a dynamic component of the cell's cilia, that can shuttle between the inner and outer regions of the cell and rescue transport. This makes it a strong candidate for gene therapy!
I'm not a geneticist, this is what I could understand from the article in plain terms. The Full text of the paper by Betleja & Cole is available free at
The abstract of the work by Craige et al can be found here
This is very good news
Fran
2 comments:
Hi,
I'm a regular follower of your blog.
I'd like to thank you for your regular updates.
I'm suffering from LCA, so your updates help me immensely in understanding everything about LCA.
Are you suffering from LCA, too?
Dear Rahul,
thank you very much for your note. It's nice to know my blog is somehow useful...:-). Yes I do have LCA, caused by the CEP290 gene.
If you'd like to meet other people with LCA and their families, we have a yahoogroup with over 700 members. You can subscribe by sending a blank message to
lca-subscribe@yahoogroups.com
or from its web page
http://groups.yahoo.com/group/LCA/
We also have a list specific on CEP290 LCA, if that is the type of Leber's you have.
Again thank you, and I hope to see you on the list!
Francesca
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