Dr. Robert Koenekoop of Montreal Children's hospital did it again. For the third time, his team has discovered a gene which, when mutated, can lead to Leber's Congenital Amaurosis. First came CEP290 in 2006, then LCA5 followed just one year later. Now it's the turn of SPATA7. Mutations in this gene disrupt the protein transport between two important compartments of the cell: the endoplasmic reticulum and the Golgi apparatus. All proteins in every cell have to pass through this transport pathway; thus SPATA7 plays a major role in vision.
Read more on this breaking news in the MUHC release
http://www.muhc.ca/media/news/item/?item_id=104925
Monday, March 09, 2009
Subscribe to:
Post Comments (Atom)
3 comments:
Thats great news. My 1 year old son has been diagnosed with LCA - really shattering news for my wife and I. Its hard to know what to expect for the poor young fella growing up - not many people in Our home town of Auckland (New Zealand) have this - so no one to talk to about it.. I would be interested to know what life holds for my son - anyone out there who has this or know of people who have it?
Hello, thank you for the comment. There is a yahoogroup on LCA with over 600 members, most of them either have LCA or are parents of kids with the disorder. I think it would be a great way for you to share your concerns and get answers. The group's URL is
http://groups.yahoo.com/group/LCA/
Take care, and good luck
Fran - Italy,LCA
Just stumbled upon your site. I have a 7month old w/ suspicion of LCA. Looking forward to reading through your posts...
~Jen
(United States)
Post a Comment