Tag : Cells

Washington: New genetic findings add weight to the theory that degenerative motor neuron disease is caused by abnormal lipid (fat) processing pathways inside brain cells. This theory could help pave the way for new diagnostic approaches and treatments for this group of conditions. The findings will provide answers to specific families not previously diagnosed. Motor neurone degenerative diseases (MNDs) are a large family of neurological disorders. Currently, there are no treatments available to prevent the onset or progression of the condition. MNDs are caused by changes in one of the numerous different genes. Despite the number of genes known to cause MNDs, many patients still remain without a much-needed genetic diagnosis. A University of Exeter team led by Professor Andrew Crosby and Dr Emma Baple has a long history of research in motor neurone degenerative diseases. The team developed a hypothesis to explain a common cause of MNDs stemming from their discovery of 15 genes responsible for MNDs. The genes they identified are all involved in processing lipids - in particular cholesterol - inside brain cells. In the new hypothesis published in the leading neurology journal Brain, describes the specific lipid pathways that the team believe are important in the development of MNDs. Now, the team has identified a further new gene - named "TMEM63C" - which causes a degenerative disease that affects the upper motor neurone cells in the nervous system. Also published in Brain, their latest discovery is important as the protein encoded by TMEM63C is located in the region of the cell where the lipid processing pathways they identified operate. This further bolsters the hypothesis that MNDs are caused by abnormal processing of lipids includi ...