OBJECTIVE: To examine the function of the novel mutation E82K in LMNA gene 
identified in a Chinese family infected by dilated cardiomyopathy.
METHODS: (1) One Chinese family infected by dilated cardiomyopathy was chosen 
for the study. Exons 1-12 of the LMNA gene were screened with both PCR method 
and the cycle sequencing of the PCR products. (2) cDNA of the E82K mutation or 
wild type of LMNA gene was transfected into HEK293 cells and the apoptosis of 
the cells was detected after treatment with 0.8 mmol/L H2O2.
RESULTS: (1) A new mutation E82K in LMNA gene was identified in this dilated 
cardiomyopathy family. (2) Apoptosis was more in the HEK293 cells transfected 
with E82K mutation than those with empty vector or wild type LMNA gene.
CONCLUSIONS: The missense mutation E82K in LMNA gene changed the polar of the 
amino acid. It showed a malignant phenotype of severe clinical symptoms, early 
onset, poor survival prognosis and might be associated with atrioventricular 
conduction block (II degrees-III degrees), suggesting that the E82K mutation in 
LMNA gene may be a candidate for nosogenesis of dilated cardiomyopathy.