A new article from researchers at Peninsula Medical School in Exeter, UK charts out ongoing studies at the school that they hope will lead to a treatment for some victims of spinal muscular atrophy (SMA).

Researchers […] have carried out studies into one of the two survival motor neuron (SMN) genes that set suffers from SMA apart from the rest of the population. In 98% of SMA sufferers, the SMN protein is only produced from one of these genes. The resulting fall in SMN protein levels is what causes SMA to develop.

The remaining two per cent of SMA sufferers produce normal levels of SMN protein, but the protein is altered so that it is no longer capable of performing its normal functions within the body. One of the main reasons for this is that these disease-causing alterations in the SMN protein prevent it from localising to the correct places in the body¡¯s cells. By looking at why mutations occur and what they do to divert protein away from the cellular areas where it is required, the Peninsula Medical School team may be able to identify compounds that alter the protein so that it is directed correctly ¨C effectively producing a treatment for the disease.

The research could also have potential bearings on other treatments, such as gene therapy.

The paper highlighting this research is the first to be published by this particular research team, and it has made the front cover of Human Molecular Genetics, a remarkable achievement for a first time publication.

Read the entire article on EurekaAltert.