PUBLICATION
Weakness of a giant: mutations of the sarcomeric protein titin
- Authors
- Hein, S. and Schaper, J.
- ID
- ZDB-PUB-020716-14
- Date
- 2002
- Source
- Trends in molecular medicine 8(7): 311-333 (Review)
- Registered Authors
- Keywords
- none
- MeSH Terms
-
- Cardiomyopathy, Dilated/genetics*
- Connectin
- Humans
- Models, Biological
- Models, Genetic
- Muscle Proteins/genetics*
- Muscle Proteins/physiology*
- Protein Isoforms
- Protein Kinases/genetics*
- Protein Kinases/physiology*
- Sarcomeres/metabolism
- PubMed
- 12114104 Full text @ Trends Mol. Med.
Citation
Hein, S. and Schaper, J. (2002) Weakness of a giant: mutations of the sarcomeric protein titin. Trends in molecular medicine. 8(7):311-333.
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping