Researchers from across Europe, including researchers from Anatomy@Edinburgh, have published findings connecting the neuromuscular disorder spinal muscular atrophy (SMA) to mutations in the SMN1 gene that cause the condition. The study, recently published in Nature Cell Biology, represents the first time that researchers have been able to study, in detail, the function of the SMN protein in new protein production. Researchers identified that the SMN protein regulates a sub-group of key protein-producing structures (called ribosomes), which are essential for the cellular process of translation to occur. During translation, ribosomes 'read' mRNA code obtained from DNA instructions, and turn them into proteins which will function within the cell. The study shows that, in SMA patients who have low levels of SMN protein, new proteins are not being produced properly in the nervous system, resulting in motor neurons that link the spinal cord to muscles breaking down. This collaborative project highlights new avenues for targeting these pathways when they go wrong, as they do in disorders such as SMA. It has also revealed fundamental insights into how our bodies control the generation of new proteins in the nervous system. Professor Tom Gillingwater Related links SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy, Nature Cell Biology Publication date 28 Sep, 2020
