New study on the role of the SMN protein in protein translation

The study, 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 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.

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.

Further information

Read the publication in Nature Cell Biology here:

SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy

Read a recent news article on the paper here:

How the loss of a single protein leads to a relentless neuromuscular disease