Structural and Functional Consequences of LMNA Gene Mutations

Funded Activity 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, 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.

Funded Activity Details

Start Date: 01-01-2002

End Date: 01-01-2004

Funding Scheme: NHMRC Project Grants

Funding Amount: $357,904.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Nutrigenomics and personalised nutrition

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

Cardiac arrhythmia | Cardiac failure | Cardiomyopathy | Molecular basis of disease | Molecular genetics | Molecular mechanisms | Murine models | Muscle disease characterised by dystrophic muscle | Myopathy

Related Links