October 8, 2013

Cornell Researcher Investigates Nuclear Mutations

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Integrating techniques from both engineering and biology, Prof. Jan Lammerding, cell and molecular biology, biomedical engineering, is investigating how mutations in cell nuclear proteins cause conditions ranging from inherited heart disease to premature aging.

Lamins are the major components of the nuclear lamina, a network of proteins inside the nuclear membrane involved in structural support, chromatin organization, and gene regulation. Diseases that arise from mutations in lamin proteins are known as laminopathies, according to Lammerding.

The gene encoding the primary lamin proteins, which structurally support the nuclear envelope is called Lamin A/C, or LMNA. Mutations in the LMNA gene have been found to cause multiple diseases, including Emery-Dreifuss muscular dystrophy, lipodystrophy, heart disease and Hutchinson-Gilford progeria. According to Lammerding, 10 percent of inherited heart diseases are caused by LMNA mutations. These are some of the most aggressive heart diseases, usually necessitating a heart transplant. More than 400 mutations in the gene have been linked to 10 different diseases.

Courtesy of Prof. Jan LammerdingScrutinizing cells | Prof. Jan Lammerding, cell and molecular biology, biomedical engineering, examines mutations in cell nuclear proteins which cause diseases.

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