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一种新的突变,即核纤层蛋白A/C基因中的Ser143Pro,在芬兰家族性扩张型心肌病患者中很常见。

A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.

作者信息

Kärkkäinen Satu, Heliö Tiina, Miettinen Raija, Tuomainen Petri, Peltola Paula, Rummukainen Juha, Ylitalo Kari, Kaartinen Maija, Kuusisto Johanna, Toivonen Lauri, Nieminen Markku S, Laakso Markku, Peuhkurinen Keijo

机构信息

Department of Medicine, University of Kuopio, P.O. Box 1777, Kuopio, Finland.

出版信息

Eur Heart J. 2004 May;25(10):885-93. doi: 10.1016/j.ehj.2004.01.020.

Abstract

AIMS

The mutations most frequently associated with dilated cardiomyopathy (DCM) have been reported in the lamin A/C gene. The role of variants of the lamin A/C gene was investigated in patients with DCM from eastern and southern Finland.

METHODS AND RESULTS

All 12 exons of the lamin A/C gene were screened in 18 well-characterised familial DCM patients from eastern and southern Finland and in 72 sporadic DCM patients from eastern Finland using the PCR-SSCP method. A novel mutation, Ser143Pro (S143P), was detected in the lamin A/C gene in 24 subjects from 5 unrelated families and in one sporadic case of DCM. Sinus or atrioventricular nodal dysfunction occurred in the majority of the affected subjects, many of which required pacemaker implantation. Seven patients (28%) with the S143P mutation died suddenly or from progressive heart failure, or underwent heart transplantation. The haplotypes 5-5-5-3, 5-5-5-2, and 5-5-5-1 co-segregated with the Ser143Pro mutation, suggesting a founder effect of this mutation.

CONCLUSIONS

A novel mutation S143P in the lamin A/C gene was found to be common among Finnish DCM patients. Haplotype analysis strongly suggests a founder effect of this mutation. The phenotype is characterised by severe heart failure, progressive atrioventricular conduction defects, and sudden death. Screening for the lamin A/C gene and, particularly, the S143P mutation seems warranted when patients with DCM have conduction system disturbances.

摘要

目的

据报道,与扩张型心肌病(DCM)最常相关的突变存在于核纤层蛋白A/C基因中。本研究调查了芬兰东部和南部DCM患者中核纤层蛋白A/C基因变异的作用。

方法与结果

采用PCR-SSCP方法,对来自芬兰东部和南部的18例特征明确的家族性DCM患者以及来自芬兰东部的72例散发性DCM患者的核纤层蛋白A/C基因的所有12个外显子进行了筛查。在5个无关家族的24名受试者以及1例散发性DCM病例中,检测到核纤层蛋白A/C基因存在一种新的突变,即Ser143Pro(S143P)。大多数受影响的受试者出现窦房结或房室结功能障碍,其中许多人需要植入起搏器。7例(28%)携带S143P突变的患者突然死亡、死于进行性心力衰竭或接受了心脏移植。单倍型5-5-5-3、5-5-5-2和5-5-5-1与Ser143Pro突变共分离,提示该突变存在奠基者效应。

结论

发现核纤层蛋白A/C基因中的一种新突变S143P在芬兰DCM患者中很常见。单倍型分析强烈提示该突变存在奠基者效应。其表型特征为严重心力衰竭、进行性房室传导缺陷和猝死。当DCM患者出现传导系统紊乱时,对核纤层蛋白A/C基因,尤其是S143P突变进行筛查似乎是必要的。

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