A Cypher/ZASP Mutation Associated with Dilated Cardiomyopathy Alters the Binding Affinity to Protein Kinase C

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Population

96 unrelated Japanese patients with dilated cardiomyopathy, a familial case, and unrelated controls

Comparison

Genetic screening for Cypher/ZASP sequence… vs Unrelated controls without the mutation

Design

Preclinical

Authors

Discussion

Supports Cypher/ZASP-PKC interaction in DCM pathogenesis; hypothesis-generating and requires human validation before clinical relevance.

Population

96 unrelated Japanese patients with dilated cardiomyopathy, a familial case, and unrelated controls

Intervention

Genetic screening for Cypher/ZASP sequence variations and biochemical functional assays (yeast two-hybrid and pull-down assays)

Comparator

Unrelated controls without the mutation

Outcome

Identification of Cypher/ZASP sequence variations and their effect on protein kinase C binding affinitysurrogate

The D626N mutation in Cypher/ZASP may contribute to the pathogenesis of dilated cardiomyopathy by increasing binding affinity to protein kinase C.

Arimura et al. (2004) studied this question.

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