Weakness of a giant: mutations of the sarcomeric protein titin

被引：12

作者：

Hein, S

Schaper, J

机构：

[1] Kerckhoff Clin, Dept Cardiac Surg, D-61231 Bad Nauheim, Germany

[2] Max Planck Inst, Dept Expt Cardiol, D-6350 Bad Nauheim, Germany

来源：

TRENDS IN MOLECULAR MEDICINE | 2002年 / 8卷 / 07期

关键词：

D O I：

10.1016/S1471-4914(02)02372-9

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

In 2002, three reports described for the first time mutations in the sarcomeric protein titin associated with dilated cardiomyopathy in humans. Despite different locations (Z-Iine region, Z-1 transitional zone, N2B region, half A band region) all mutations resulted in heart failure. In addition, an N2B mutation was found in zebrafish embryos with ventricular dilatation and cardiac insufficiency. It is concluded that titin mutations have significant functional consequences and need to be studied intensively in the future.

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收藏

页码：311 / 313

页数：3

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