First the abstract and then why I am sending it:
QUOTE
Science. 2013 Oct 4;342(6154):111-114.
Allele-Specific Silencing of Mutant Myh6 Transcripts in Mice Suppresses
Hypertrophic Cardiomyopathy.
Jiang J, Wakimoto H, Seidman JG, Seidman CE.
Source
Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
Abstract
Dominant mutations in sarcomere proteins such as the myosin heavy
chains (MHC) are the leading genetic causes of human hypertrophic
cardiomyopathy (HCM) and dilated cardiomyopathy. We found that
expression of the HCM-causing cardiac MHC gene (Myh6) R403Q mutation in
mice can be selectively silenced by an RNA interference (RNAi) cassette
delivered by an adeno-associated virus vector. RNAi-transduced MHC403/+
mice developed neither hypertrophy nor myocardial fibrosis, the
pathologic manifestations of HCM, for at least 6 months. Because
inhibition of HCM was achieved by only a 25% reduction in the levels of
the mutant transcripts, we suggest that the variable clinical phenotype
in HCM patients reflects allele-specific expression and that partial
silencing of mutant transcripts may have therapeutic benefit.
PMID: 24092743 [PubMed - as supplied by publisher]
END QUOTE
As has been mentioned here before, cardiomyopathy tends to be a genetic
disorder which is seen more often in ferrets if they have Neural Crest
genetic variations, and indeed an increase in the rate of all forms of
cardiomyopathy is seen in a very wide range of mammals when they have
genetic changes to the Neural Crest. Neural Crest Variations are
usually seen with extraneous white markings (though they can be hidden
because of having variable expression across generations, and because
the telltale markings that appear in many individuals with Neural Crest
variations are white so are hidden in marked whites, albinos, and
DEWs). Incredibly rare -- but possibly bred once as a failed line by
a Scandinavian breeder who moved his operation to China after found
guilty of animal abuse -- is LEOPARD Syndrome, a Neural Crest variation
that causes hyper-pigmented spots (black spots) on skin and fur and
which is associated in studies with poor health including
cardiomyopathy. Furthermore, there are several loci (genetic locations)
at which such alleles could be located so it is possible for an
individual to have cumulative Neural Crest genetic variations. Sadly,
many of these types of markings were preferentially bred in ferrets,
first in the U.S. beginning with private breeders and one medium sized
farm, and more recently they began appearing more in parts of Europe.
As it stands this work is not useful at this time for most of us, but
it does help clarify for everyone why cardiomyopathy happens and shows
vets that there is progress in approaches but at this point what is
being looked at is not a treatment for cardiomyopathy that is already
present. What is being done here is suppressing the development of
cardiomyopathy in the first place.
Sukie (not a vet) Ferrets make the world a game.
Recommended ferret health links:
http://pets.groups.yahoo.com/group/ferrethealth/
http://ferrethealth.org/archive/
http://www.miamiferret.org/
http://www.ferrethealth.msu.edu/
all ferret topics:
http://listserv.ferretmailinglist.org/archives/ferret-search.html
"All hail the procrastinators for they shall rule the world tomorrow."
(2010, Steve Crandall)
A nation is as free as the least within it.
[Posted in FML 7935]
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