[Titin gene mutations in Chinese patients with dilated cardiomyopathy].
OBJECTIVE
Titin is recently known as the largest protein which exists in the striated muscle sarcomere and is dynamic both in biomechanics properties and biochemical functions. Four possible disease-associated mutations located in three exons (3, 14, 49) of titin gene (TTN) have been identified in Japanese DCM patients in 2002. We observed the possible association of TTN mutation in Chinese patients with DCM.


METHODS
Three exons of TTN (3, 14, 49) were screened in 117 DCM patients and 120 controls by polymerase chain reaction-single strand conformation polymorphisms (PCR-SSCP) and DNA sequence. SSCP was carried out following a protocol optimized for each PCR fragment after amplification. Abnormal SSCP results were subsequently confirmed by DNA sequencing.


RESULTS
The mutations reported in Japanese DCM patients were not identified in this patient cohort. A novel mutation [the G13053A (TTN cDNA sequence, X90568) change resulted in amino acid change at position 4351 (Gly4351Asp)] was found in two young DCM patients from a DCM family (1.7%). There was no similar mutation in controls.


CONCLUSIONS
This novel Gly4351Asp mutation in TTN might be associated with DCM.
LIU
Xing
X
Department of Cardiology, West China Hospital of Sichuan University, Chengdu 610041, China.
RAO
Li
L
ZHOU
Bin
B
ZHANG
Bei-lei
BL
WANG
Yan-yun
YY
CHEN
Bin
B
WU
Yang
Y
HUANG
Ping
P
D000368:Aged; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D016022:Case-Control Studies; D064211:Connectin; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011494:Protein Kinases / Q000235:genetics*
D064211:Connectin; D009124:Muscle Proteins; C577285:TTN protein, human; D011494:Protein Kinases