Reply
Fri 5 Nov, 2010 05:00 am
Does "deficiencies in aire" mean "AIRE gene deficiencies?"
Or does it just mean "AIRE deficiencies?"
Context:
APECED is recognized by the co-occurrence at an early age of
resistant mucocutaneous candidiasis with supervening autoim-
mune endocrinopathies, especially adrenal and parathyroid defi-
ciencies. The occurrence of APECED in humans is associated with
mutant alleles of the Autoimmune Regulator (AIRE) gene [9]. Some
features of APECED can be reproduced in mice by genetically
engineered deficiencies in aire [10].
@oristarA,
One would have to read the [10] reference to be sure, but I'm guessing that "deficiencies in aire" refer to the AIRE protein and that these deficiencies are genetically engineered in mice by altering the AIRE gene. So, no, I don't think they mean "AIRE gene deficiencies" One can genetically engineer mutated genes but the mice aren't "gene deficient".
@JPB,
Thanks.
Is it possible that they knocked out the AIRE genes in mice (in other words, they genetically engineered the mice), which caused the aire deficiencies in the mice?
@oristarA,
Well, yes, that's how they genetically engineer the deficiencies but I usually think of knockout genes as being "turned off" in order to prevent them from making the proteins they would otherwise make. I think you'd have to look at the reference article to see how they're using the word "deficiencies" in context, but (to me) a knockout mouse isn't gene deficient so much as it's genetically altered to make the mouse protein deficient.
@JPB,
That information is useful.
Thank you JPB.
@oristarA,
Although, it doesn't really matter whether they're talking about deficiencies in the gene or the protein. The point of the article is the link between APECED and "supervening autoimmune endocrinopathies, especially adrenal and parathyroid deficiencies." Those endocrinopathies are being related to AIRE, which refers to both the gene and the protein.
Stumble It!
Tweet This
Bookmark on Delicious
Share on Facebook
Share on MySpace