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ABSTRACT: Long QT syndrome (LQTS) is the prototype of the cardiac ion channelopathies, which cause syncope and sudden death. Inherited
LQTS is represented by the autosomal dominant Romano-ward syndrome (RWS), which is not accompanied by congenital deafness,
and the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), which is accompanied by congenital deafness. The LQTS-causing
mutations have been reported in patients and families from Europe, North America and Japan. Few genetic studies have been
carried out in families with JLNS from China. This study investigates the molecular pathology in four families with LQTS (including
a family with JLNS) in the Chinese population. Polymerase chain reaction and DNA sequencing were used to screen for KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A mutation. A missense mutation G314S in an RWS family was identified, and a single nucleotide polymorphism (SNP) G643S was
indentified in the KCNQ1 of the JLNS family. In this JLNS family, another heterozygous novel mutation in exon 2a was found in KCNQ1 of the patients. Our data provide useful information for the identification of polymorphisms and mutations related to LQTS
and the Brugada Syndrome (BS) in Chinese populations.
Frontiers of Medicine in China 04/2012; 1(3):312-315.
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ABSTRACT: There is an accumulating body of evidence indicating that inflammation plays a pivotal role in the pathogenesis of cardiovascular disease. Interleukin-6 (IL-6) is a pleiotropic cytokine secreted by many cells of the immune system, cardiovascular components and adipose tissue, and functions as a mediator of inflammatory response with both pro- and anti-inflammatory properties. Circulating levels of IL-6 differ greatly between individuals due to both genetic and environmental factors. The IL-6 -634C>G polymorphism is common in eastern Asian populations. The aim of the present study was to investigate the association of this polymorphism with essential hypertension (EH) and left ventricular hypertrophy (LVH) in 440 subjects (246 EH patients and 194 controls) from a Han Chinese population. In this study, IL-6 -634C>G genotypes were identified by polymerase chain reaction and restriction digestion in all study participants, and left ventricular mass was assessed by 2-mode echocardiography in 178 untreated EH patients. There was no significant difference in either genotype distribution (p=0.9528) or allele frequency (p=0.7775) between the EH and control groups. In addition, the -634C>G polymorphism had no effect on blood pressure in either the controls or the untreated EH patients. No significant differences in genotype distribution (p=0.7998) or allele frequency distribution (p=0.5468) were found between EH patients with and without LVH. Moreover, the echocardiographic parameters were not statistically different between the CC and CG+GG genotypes. These findings suggest that there is no association of the IL-6 -634C>G polymorphism and EH with LVH in EH patients.
Molecular Medicine Reports 03/2011; 4(2):283-9. · 0.42 Impact Factor
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Xiaoyan Wu,
Qing K Wang, Le Gui,
Mugen Liu,
Xianqin Zhang,
Runming Jin,
Wei Li,
Lu Yan,
Rong Du,
Qiufen Wang,
Jianfang Zhu,
Junguo Yang
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ABSTRACT: Even though mutations in LMNA have been reported in patients with typical dilated cardiomyopathy (DCM) and atrioventricular block (AVB) previously, the purpose of this study was to disclose this novel genetic abnormality in one Chinese family with the atypical phenotype of progressive AVB followed by DCM with normal QRS interval. Genome-wide linkage analysis mapped the AVB gene in this family to a marker at chromosome 1q21.2, where the LMNA gene was located. Direct DNA sequence analysis revealed a heterozygous G to A transition at nucleotide 244 in exon 1 of LMNA, which resulted in an E82K mutation. The E82K mutation co-segregated with all affected individuals in the family, and was not present in 200 normal controls. Further clinical evaluation of mutation carriers showed that 5 of 6 AVB patients exhibited mild DCM with a late onset of age in the fourth and fifth decades. Ejection fractions were documented in 5 patients with DCM, but 4 showed a normal value of > or = 50%. Echocardiography showed that atrial dilatation occurred earlier than ventricular dilatation in the patients. This study suggests that progressive AVB with normal QRS interval and accompanying DCM at later stages may represent a distinct type of DCM. The molecular mechanism by which the E82K mutation causes AVB as the prominent phenotype in DCM may be a focus of future studies.
Journal of Huazhong University of Science and Technology 02/2010; 30(1):103-7. · 0.38 Impact Factor
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ABSTRACT: To explore the mutations of MEF2A gene in Chinese patients with coronary artery disease(CAD).
With polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA direct sequencing, the mutation analysis of exon 11 of MEF2A gene was performed to 156 patients with CAD and 93 normal controls.
By DNA sequence analyzing the samples of abnormal mobility shift of SSCP, the MEF2A gene mutations were found in three patients with CAD. One of mutations was 147130(C>A)(P431Q), and the second one was 21 bases deletion(147108-147128) which was leading to the absence of 7 amino acids (424QQQQQQQ430), and the third was 147191(G>T). Three mutations were all found in one patient, but meanwhile 21 bases deletion was found in the other two patients.
Mutations in exon 11 of MEF2A gene exist in the patients with CAD, and the mutations may be pathological.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 06/2006; 23(3):265-8.
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ABSTRACT: We studied the effects of Chinese traditional medicine rhynchophylline (Rhy) on human ether-a-go-go related gene (HERG) channel and characterized the electrophysiological properties of Rhy's pharmacological effect on HERG channel using Xenopus oocytes. Xenopus oocytes were injected with either 23 nl (5.75 ng) HERG cRNA or 23 nl distilled water. Xenopus oocytes were randomly assigned to receive one of the following different concentrations of Rhy: (1) control, (2)10 mumol/L Rhy, (3)100 mumol/L Rhy, (4) 500 mumol/L Rhy, (5) 1 000 mumol/L Rhy, (6) 10 000 mumol/L Rhy. Cell currents were recorded in oocytes. The peak tail currents of HERG channel were inhibited by Rhy. The inhibition was in a dose-dependent manner [IC(50)=(773.4 +/- 42.5) mumol/L]. Experiment with 100 mumol/L Rhy indicated that the degree of HERG blockade showed some voltage dependence (within -40 mV to -20 mV ). Kinetic analyses revealed that Rhy decreased the rate of channel activation. The findings indicate that Rhy inhibits HERG encoded potassium channels. It may underline the molecular mechanism of myocardial electrophysiological characteristics associated with this drug.
Sheng li xue bao: [Acta physiologica Sinica] 11/2005; 57(5):648-52.
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ABSTRACT: To investigate the molecular pathology in families with long QT syndrome (LQTS) including Jervell-Longe-Nielsen syndrome (JLNS) and Romano-ward syndrome (RWS) and Brugada syndrome (BS) in Chinese population.
Polymerase chain reaction and DNA sequencing were used to screen for KCNQ1, KCNH2, KCNE1, and SCN5A mutation.
We identified a novel mutation N1774S in the SCN5A gene of the BS family, a novel mutation G314S in a RWS family which had also been found in Europe, North America, and Japan, and a single nucleotide polymorphisms (SNPs) G643S in the KCNQ1 of the JLNS family. In this JLNS family, another heterozygous novel mutation in exon 2a was found in KCNQ1 of the patients.
New mutations were found in our experiment, which expand the spectrum of KCNQ1 and SCN5A mutations that cause LQTS and BS.
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 07/2005; 27(3):289-94.
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ABSTRACT: To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).
The disease-causing gene was tentatively determined in light of the clinical manifestations and electrophysiological properties, and then polymerase chain reaction and DNA sequencing were used for screening and identifying mutation.
A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.
The mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 03/2005; 22(1):68-70.
