Scientists make groundbreaking discovery of cell nucleus structure crucial to understanding diseases

Feb 08, 2013

Genes relocated from their correct position in the nucleus cause them to malfunction and this may lead to the heart, blood vessels and muscles breaking down. This new discovery by A*STAR scientists may be the key to finding new cures in the future.

Scientists from Singapore and Germany have identified that the proteins lamin A (Lmna) and lamin B receptor (Lbr) are essential for holding silent genes in their correct position at the edge of the , in the form of heterochromatin. A deviation from their normal position will cause the genes to malfunction, leading to heart failure, vascular disease and muscle wasting.

For hundreds of years before this discovery, scientists were puzzled by why heterochromatin clustered at the edge of the nucleus and how it was relevant to normal cell function. This recent discovery will enable scientists to gain a better understanding of the diseases of the heart and muscles, and find cures for them in the future.

The findings by Audrey Wang and Colin Stewart of A*STAR's Institute of Medical Biology and Irina Solovei, Boris Joffe and Heinrich Leonhardt of the Ludwig Maximillian University in Munich, Germany, were recently published in the prestigious journal Cell.

The nucleus – the brain of the cell – carries all the information, in the form of chromatin necessary to help a cell grow, thrive, and reproduce, in the form of DNA packed into chromatin. Hence, understanding how chromatin is organised in the nucleus is important to understanding disease and normal processes such as ageing. The scientists showed that the two proteins lamin A and lamin B receptor are important to the organisation of chromatin in the nucleus. Using mouse models, they demonstrated that in the absence of the two proteins, heterochromatin collapsed into the nuclear centre. This disrupted and affected , resulting in muscle failure (Annex A).

Professor Stewart, Research and Assistant Director of IMB, said, "These findings will provide new insights into how diseases arise and may help explain how mutations in lamin proteins result in a variety of different syndromes. In particular, we are extending these findings to explore how changes in position may contribute to . Moving forward, we will collaborate with cardiologists and vascular clinicians at SGH and NUHS to translate these findings to benefit patients."

Explore further: What happens when good genes get lost?

More information: The research findings described in this news release can be found in Cell under the title "LBR and Lamin A/C Sequentially tether Peripheral Heterochromatin and Inversely Regulate Differentiation" by Irina Solovei et al., dx.doi.org/10.1016/j.cell.2013.01.009

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