alpha-Tropomyosin mutations Asp(175)Asn and Glu(180)Gly affect cardiac function in transgenic rats in different ways.

Journal article

To study the mechanisms by which missense mutations in alpha-tropomyosin cause familial hypertrophic cardiomyopathy, we generated transgenic rats overexpressing alpha-tropomyosin with one of two disease-causing mutations, Asp(175)Asn or Glu(180)Gly, and analyzed phenotypic changes at molecular, morphological, and physiological levels. The transgenic proteins were stably integrated into the sarcomere, as shown by immunohistochemistry using a human-specific anti-alpha-tropomyosin antibody, ARG1...

Expand abstract

Authors: Wernicke, D; Thiel, C; Duja-Isac, C; Essin, K; Spindler, M

• Publication status: Published
• Journal: American journal of physiology. Regulatory, integrative and comparative physiology
• Volume: 287
• Issue: 3
• Pages: R685-R695
• Publication date: 2004-09-01
• DOI: 10.1152/ajpregu.00620.2003
• EISSN: 1522-1490
• ISSN: 0363-6119
• Language: English
• Keywords: Myocytes, Cardiac; Gene Expression; Mutation, Missense; Glycine; Animals, Genetically Modified; Aspartic Acid; Calcium; Heart Ventricles; Myocardial Contraction; Transgenes; Immunohistochemistry; Heart; Cardiomyopathy, Hypertrophic, Familial; Muscle Fibers, Skeletal; Glutamic Acid; Sarcomeres; Tropomyosin; Animals; Biological Markers; Rats; Humans; Asparagine