[A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy].
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.
Wang
Hu
H
Sino-German Laboratory for Molecular Medicine, Cardiovascular Institute and Fu Wai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.
Zheng
Wei-yue
WY
Wang
Ji-zheng
JZ
Wang
Xiao-jian
XJ
Zhen
Yi-song
YS
Song
Lei
L
Zou
Yu-bao
YB
Hui
Ru-tai
RT
D000595:Amino Acid Sequence; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D002460:Cell Line; D005091:Exons; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree
C494847:LMNA protein, human; D034904:Lamin Type A