Key result
CTNNA3 gene mutations linked to ARVC pathogenesis.
Why the study?
Mutations in several desmosomal genes cause ARVC, and it was hypothesized that the area composita protein αT-catenin, encoded by CTNNA3, might also carry mutations in ARVC patients.
Are mutations in the CTNNA3 gene associated with arrhythmogenic right ventricular cardiomyopathy in patients without common desmosomal mutations?
Observational (n=76)
Are mutations in the CTNNA3 gene associated with arrhythmogenic right ventricular cardiomyopathy in patients without common desmosomal mutations?
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Mutations in the CTNNA3 gene encoding αT-catenin are associated with ARVC, expanding the known pathogenesis of the disease beyond desmosomes to the area composita.
Hengel et al. (2012) conducted an observational in Arrhythmogenic right ventricular cardiomyopathy (ARVC) (n=76). CTNNA3 mutations was evaluated on Identification of CTNNA3 mutations. Mutations in the CTNNA3 gene (c.281T > A and c.2293_2295delTTG) were identified in two ARVC probands, suggesting a causal relationship between area composita gene mutations and ARVC pathogenesis.
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