Penn researchers discover 'modus operandi' of heart musc...(t muscle cells. Lmod also directs ac...),Health

Lmod also directs actin filaments to the sarcomere, the part of the heart that controls contractions or pumping. When Lmod was knocked down in cardiac muscle cells by an RNA silencing technique, the sarcomeres became completely disorganized and could not direct muscles to contract.

Proper localization of Lmod in heart cells is critical, because even moderately elevated levels promote the formation of abnormal actin bundles in the nuclei of cardiac muscle cells where actin does not belong. A similar disorganization of actin bundles is characteristic of a disease of skeletal muscle weakness called intranuclear rod myopathy. Although this disease is caused by a mutation in a skeletal muscle-specific actin gene, the similarity in appearance suggests that mutations in Lmod could cause the same type of disease in cardiac muscle cells.

The Penn team is currently studying how the heart regulates the level of Lmod and how Lmod might be relevant to cardiac muscle disease. In addition, the team is attempting to crystallize Lmod in order to study its structure directly.

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