A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher
New research….. by Marta Owczarek-Lipska, Theresa-Bernadette Mausberg, Hannah Stephenson, Joanna Dukes-McEwan, Gerhard Wess and Tosso Leeb
The reported association of the PDK4 variant with DCM1 that was obtained in a cohort of 132 Doberman Pinschers of presumably American origin could not be replicated in a larger cohort of European origin. This PDK4 variant is not specific to Doberman Pinschers but is also present at low frequency in diverse other dog breeds. We found no evidence for an involvement of the PDK4 gene in the etiology of DCM.