PUBLICATION
A window to the heart: can zebrafish mutants help us understand heart disease in humans?
- Authors
- Sehnert, A.J. and Stainier, D.Y.R.
- ID
- ZDB-PUB-020828-1
- Date
- 2002
- Source
- Trends in genetics : TIG 18: 10491-10494 (Review)
- Registered Authors
- Sehnert, Amy, Stainier, Didier
- Keywords
- none
- MeSH Terms
-
- Mutation
- Humans
- Cardiomyopathies/genetics
- Heart Diseases/genetics*
- Myocardial Contraction/genetics
- Arrhythmias, Cardiac/genetics
- Zebrafish/genetics*
- Animals
- Heart Rate/genetics
- PubMed
- 12350332 Full text @ Trends Genet.
Citation
Sehnert, A.J. and Stainier, D.Y.R. (2002) A window to the heart: can zebrafish mutants help us understand heart disease in humans?. Trends in genetics : TIG. 18:10491-10494.
Abstract
Heart disease is a leading cause of death in the developed world. Abnormalities of heart muscle (cardiomyopathies) and/or electrical conduction (arrhythmias) are frequent causes of heart failure and sudden death. During the past twelve years, identification of genetic mutations that cause familial cardiomyopathies and arrhythmias has fueled a massive increase in molecular investigation into these diseases. Today, studies of zebrafish mutants with defective heart function are providing insight into the genes required to generate a normal heartbeat.
The heart is the first organ to form, and during an average human lifetime it beats more than 2.5 billion times. The proteins involved in excitation?contraction coupling and calcium handling are central to normal heart function [1] . Mutations in genes encoding some of these proteins (i.e. cardiac contractile proteins and membrane ion channels) cause two major categories of heart disease in humans: cardiomyopathies (affecting heart muscle) and channelopathies (affecting heart rhythm) [2,3] . However, despite extensive research, the precise mechanisms that lead from genetic mutation to disease phenotype are unknown (reviewed in Refs [4,5] ). For the purpose of this discussion, we focus on the inherited cardiomyopathies. Understanding the molecular basis of inherited cardiomyopathies has implications for many forms of acquired heart disease.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping