An exciting breakthrough for epilepsy diagnosis

Posted Jul 21 2017 in Brain science; genetics

What would it mean if epilepsy could be diagnosed much earlier? More rapid treatment and fewer tests for sure, but it could also help reduce the incredible angst, frustration and general disruption that people often face whilst waiting for a diagnosis.

Researchers at University of Illinois at Chicago (UIC) have discovered that complex cellular process in epileptic brain tissue leave tell-tale signs that distinguish it from non-epileptic tissue. This can be detected using a non-invasive technique called magnetic resonance spectroscopy (MRS). Current non-invasive investigations can’t detect epileptic tissue of less than 10 square centimetres, meaning that it can be missed and that people who need treatment do no receive it. Some people are referred for much more invasive tests that can be painful and carry risks.

The MRS method used here was able to identify epileptic regions that were a lot smaller, which means that it could potentially help diagnose epilepsy a lot more efficiently.

The study
During the study, the team used a powerful MRS scanner (based at Wayne State University, Detroit) to analyse epileptic, ‘less-epileptic’ and non-epileptic brain tissue removed from nine people as part of epilepsy surgery. More specifically, they wanted to look at the levels of chemicals linked to metabolic processes in the tissues’ cells (known as their metabolomic signature).

They found that tissue with a lot of epileptic activity had higher levels of compounds called creatine, phosphocreatine and choline, but lower levels of lactate, which is a strong indicator of abnormal metabolism. The researchers then examined the tissue more closely in the laboratory and saw that epileptic tissue had many more blood vessels than ‘less epileptic’ and non-epileptic tissue. Genetic analysis also showed that epileptic tissue had greater activation of genes linked to blood supply formation and changes in metabolism.

The reason for the altered metabolomic signature in the epileptic tissue is not entirely clear, but Senior Author Dr Jeffrey Loeb says: “These are areas of the brain where large populations of neurons are firing often, and this uses up a lot of energy, so it’s not surprising that we see an altered metabolic profile with a massive expansion of blood vessels.”

What happens next?
Further studies involving UIC and Wayne State are already underway to fully translate these findings to the clinical setting, where people would undergo a non-invasive scan (very similar to an MRI) and the metabolomic signature of their brain tissue would be revealed. If successful, this could revolutionise the diagnosis, and the treatment, of epilepsy. It could even lead to therapies that prevent epilepsy from developing after a brain injury.

Dr Loeb comments: “The technology will allow us to diagnose epilepsy much earlier. This is critical if we are to develop new treatments to prevent epilepsy from developing after a head injury, stroke, or brain tumor.”

This study is published in the scientific journal, Epilepsia.

Click here for more articles about brain science including genetics.

News Updates

Sign up for Research updates

News categories