Weakness of a giant: mutations of the sarcomeric protein titin |
| |
| Authors: | Hein Stefan Schaper Jutta |
| |
| Affiliation: | 1. Department of Metabolic Diseases and Chemical Pathology, University Hospitals of Leicester NHS Trust, Level 4, Sandringham Building, Leicester Royal Infirmary, Leicester LE1 5WW, United Kingdom;2. Department of Cardiovascular Sciences, University of Leicester, United Kingdom;3. Department of Cardiology, Sandwell and West Birmingham Hospitals NHS Trust, United Kingdom;4. Department of Stroke Medicine, University Hospitals of Leicester NHS Trust, United Kingdom;5. National Institute for Health Research Leicester Biomedical Research Centre, University of Leicester, United Kingdom;1. Department of General Internal Medicine, Medical College of Wisconsin, Milwaukee, WI, USA;2. Aurora Cardiovascular Services, Aurora Sinai/Aurora St. Luke''s Medical Centers, Milwaukee, WI, USA;3. Division of Cardiology, Medical College of Wisconsin, Milwaukee, WI, USA;4. Kalamoon Medical School, Damascus, Syria;5. Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA;6. University of California, Los Angeles, CA, USA |
| |
| Abstract: | 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-line region, Z-I 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. |
| |
| Keywords: | |
| 本文献已被 ScienceDirect PubMed 等数据库收录！ |
|
