JCM Study Updates
October 2007The University of Pennsylvania (UPenn) team studying Juvenile Dilated Cardiomyopathy in Portuguese Water Dogs has tried the genetic marker test they developed for JDCM in PWDs on affected TMT DNA they had on file. The test did not work, confirming that the genes responsible for the disease are not the same in both breeds and supporting the UPEI team’s hypothesis that cardio as seen in Toy Manchesters is unique.
UPenn has indicated they are interested in working on identifying a marker for cardio in our breed, however they require DNA samples from 10 affected dogs plus parents and as many siblings as possible in order to begin that process.
We believed we had DNA stored for 4 TMTs but at this point it appears that in 2 of the autopsies conducted by outside pathologists, DNA was never collected. This means we are a lot further away than we had hoped, given that we now need 8 more autopsies with DNA properly collected. In the meantime, UPenn has offered to store DNA and blood samples from currently identified dogs for as long as is necessary to gather the base of 10 required. Amanda is currently working with UPenn to finalize release forms and blood collection protocols. She will then contact involved breeders/owners of the two puppies currently on file so that blood collection from relatives in those cases can be carried out.
While we have previously put more emphasis on receiving complete autopsy information, now that the study has progressed further we must emphasize how important it is for DNA samples to be properly harvested and stored during the necropsy. In order to do this it is imperative that UPEI’s study protocols be followed by the pathologist and/or that the study team be contacted as soon as possible following a fatal episode.
On another note, our team at UPEI (Dr. Cote and Dr. Martinson), are now starting work on a clinical paper on the disease for formal publication at a future date. This paper will not only look closely at the physical aspects of the disease, but will also examine pedigree data and touch of possible modes of inheritance.