Objective-To evaluate the coding region of the cardiac actin gene in Doberm
an Pinschers with dilated cardiomyopathy (DCM) for mutations that could be
responsible for the development of the condition
Animals-28 dogs (16 Doberman Pinschers with DCM and 12 mixed-breed control
dogs).
Procedure-Ten milliliters of blood was collected from each dog for DNA extr
action.
Polymerase chain reaction (PCR) primers were designed to amplify canine exo
nic regions, using the sequences of exons 2 to 6 of the cardiac actin gene.
Single-stranded conformational polymorphism analysis was performed for eac
h exon with all samples. Autoradiographs were analyzed for banding patterns
specific to affected dogs. The DNA sequencing was performed on a selected
group of affected and control dogs.
Results-Molecular analysis of exons 2 To 6 of the cardiac actin gene did no
t reveal any differences in base pairs between affected dogs and control do
gs selected for DNA evaluation.
Conclusions-Mutations in exons 5 and 6 of the cardiac actin gene that have
been reported in humans with familial DCM do not appear to be the cause of
familial DCM in Doberman Pinschers. Additionally, evaluation of exons 2 to
6 for causative mutations did not reveal a cause for inherited DCM in these
Doberman Pinschers. Although there is evidence that DCM in Doberman Pinsch
ers is an inherited problem, a molecular basis for this condition remains u
nresolved. Evaluation of other genes coding for cytoskeletal proteins is wa
rranted.