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There was a big announcement on 29 August 2024 from ,Ìýthe leading charity for over 110,000 people in the UK living with one of over 60 muscle wasting and weakening conditions.Ìý They are investing £1.7 million into 12 new research projects across England and Scotland, including five at ×î×¼µÄÁùºÏ²ÊÂÛ̳.

The projects include one led by , from ×î×¼µÄÁùºÏ²ÊÂÛ̳'s Research Department of Cellular and Developmental Biology.Ìý This projectÌýaims to understand whether or not changes in the shape of nuclei in muscle cells of people with laminopathies cause the loss of organisation of DNA.Ìý Laminopathies are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina and similar structures.ÌýÌýA gene, called LMNA, makes proteins called lamin A/C. Genetic changes to LMNA cause the laminopathies, which affect a variety of organs, particularly the heart and the muscles.

Each cell has a nucleus, a round-shaped structure in which DNA is stored. Lamin A/C proteins form a structure called the nuclear lamina, which is critical to maintaining the structure of the cell nucleus.ÌýÌýDNA inside the nucleus is not randomly distributed but is organised in a careful manner, with the help of the nuclear lamina. One of the cellular features most associated with laminopathies is changed nuclear shape. This occurs in muscle cells when there is a problem with lamin proteins, because muscles are a part of the body that moves frequently, meaning a lot of force and physical stress is placed on the muscle cells.ÌýÌý

Professor Tedesco and his team have developed a model of muscles under laboratory conditions. These are called mini-muscles – read moreÌý. In this new study, the team will isolate nuclei of particular shapes from mini-muscles made from cells taken from people who live with laminopathies. The team has already collected the biopsy samples as part of another study.ÌýThey will use methods for ‘reading’ the genes, broadly called sequencing, to see if changes in nuclear shape have any effect on the organisation of DNA.ÌýÌý

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