Publications (2)0 Total impact
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ABSTRACT: 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. 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. 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. This novel Gly4351Asp mutation in TTN might be associated with DCM.Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases] 01/2009; 36(12):1066-9.
Article: [The association of IL-2 promoter polymorphisms with idiopathic dilated cardiomyopathy in Chinese Han population].[show abstract] [hide abstract]
ABSTRACT: To investigate whether -384T/G, -475A/T, and -631G/A polymorphisms in the interleukin-2(IL-2) gene promoter region are associated with idiopathic dilated cardiomyopathy(IDCM) in Southwestern Chinese Han population. Polymerase chain reaction and restriction fragment length polymorphism techniques were used to analyze single nucleotide polymorphisms of the IL-2 gene at positions -384, -475, and -631 in 109 IDCM patients and 210 unrelated healthy subjects in Han population of Southwestern China. Compared to healthy controls, the frequency of TT and TG genotypes (0.9541 in patients vs. 0.8762 in controls, P was 0.042) and the T allele (0.7294 in patients vs. 0.6452 in controls, P was 0.039) at position -384, were significantly increased in IDCM patients, whereas no differences of genotype or allele frequencies were found between IDCM patient and healthy control groups at positions -475 and -631. These data indicate the association of IL-2 gene single nucleotide polymorphisms with human IDCM. Additionally, the T allele of the IL-2 gene promoter at position -384 may increase the risk of developing IDCM.Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 07/2008; 25(3):322-5.