Structural And Functional Consequences Of LMNA Gene Mutations
Funder
National Health and Medical Research Council
Funding Amount
$357,904.00
Summary
Heart failure due to diseases of the heart muscle is a leading cause of illness and death in Australia. It has recently been discovered that mutations (changes in the DNA sequence) in genes in the heart are an important cause of heart muscle disease. In many cases, these gene mutations are passed from generation to generation in families. Mutations in the LMNA gene have been found to cause abnormalities of the heart s contraction and rhythm. The LMNA gene encodes two proteins, lamins A and C, th ....Heart failure due to diseases of the heart muscle is a leading cause of illness and death in Australia. It has recently been discovered that mutations (changes in the DNA sequence) in genes in the heart are an important cause of heart muscle disease. In many cases, these gene mutations are passed from generation to generation in families. Mutations in the LMNA gene have been found to cause abnormalities of the heart s contraction and rhythm. The LMNA gene encodes two proteins, lamins A and C, that are located in the muscle cell nucleus. The role of lamins A and C in the heart and the mechanism by which mutant proteins cause heart muscle disease are unknown. We propose to address these questions by studying a mouse model in which lamins A and C have been knocked out. We will also perform in vitro experiments to examine the effects of LMNA mutations that have been found in affected families. These studies will contribute to a better understanding of the causes of heart muscle disease and will ultimately lead to new approaches to the diagnosis and treatment of patients with heart failure and disturbances of heart rhythm.Read moreRead less