Titin is a major human disease gene.
Titin is a major human disease gene.
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DOI：
10.1161/circulationaha.112.139717
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发表时间：
2013-02-26
期刊：
影响因子：
37.8
通讯作者：
Granzier HL
中科院分区：
文献类型：
--
作者：
LeWinter MM;Granzier HL
LeWinter and Granzier Titin and Human Disease 939 thick filament), but the expression ratio of compliant (N2BA) to stiff (N2B) titin is variable (in human control left ventricular myocardium≈ 40: 6018). Because of the intimate relationship between the size of the I-band region of titin and titin-based passive tension, with larger elastic I-band regions corresponding to lower passive tension, the titin isoform expression ratio in the heart is a crucial determinant of titin-based passive tension (Figure 1B).Variable titin expression ratios have been found in patients with cardiac disease. Patients with ischemic cardiomyopathy have been shown to express increased levels of N2BA titin that was accompanied by decreased stiffness at the myofibrillar level. 18 Changes in titin isoform expression have also been found in patients with end-stage HF attributable to nonischemic DCM, where the compliant N2BA isoform was upregulated and associated with decreased passive stiffness and increased chamber compliance. 19, 20 The study by Nagueh et al19 also suggested a physiological benefit of this change in titin
