Diagnosis of gluten sensitivity-related neurological dysfunction

How the identification of a disease biomarker has led to the development of a new diagnostic procedure.

Image of gluten testing

Estimates indicate that sensitivity to gluten affects up to 1% of people in Western Europe and the USA. Yet only one in eight of those suffer from the typical gastrointestinal symptoms and inflammation of the bowel that is referred to as celiac disease.

It is now accepted that gluten sensitivity is a systemic autoimmune disease which can manifest in a wider range of organ systems.

“From bench to bedside” often is more a wish than reality. As a consequence of his expertise and ground breaking work, Professor Aeschlimann discovered the presence of transglutaminase 6-autoantibodies in gluten sensitive disorders to provide a marketing platform for Zedira to launch the novel diagnostic kit.

Ralf Pasternack & Martin Hils Managing partners of Zedira

A collaborative approach

Collaborative research between Cardiff University researchers led by Professor Aeschlimann and a team at Sheffield University led by Professor Hadjivassiliou has examined the disease in more detail.

The team’s work has provided molecular evidence that confirms that neurological dysfunction can occur from gluten sensitivity and it is associated with the development of an autoimmune response to transglutaminase 6 (TG6) (NICE 2014).

This led to Cardiff University researchers leading on the development of diagnostic tests based on these findings. Neurological presentations of gluten sensitivity are now recognised by clinicians and screening for anti-TG6 autoantibodies is used in diagnosis.

Biomarker

A biomarker is a traceable substance that is produced by the disease process and can reveal molecular changes long before organ function is compromised or symptoms occur. This new biomarker makes it for the first time possible to diagnose, and consequently treat, a group of patients with progressive neurological problems. Early diagnosis prevents irreversible damage to the brain and hence  makes a real difference for the patients' quality of life.

A new diagnosis

As a result of the team’s research, the effectiveness of patient care has increased considerably. Previously patients were difficult to diagnose which exascerbated their condition despite it being treatable.  Early diagnosis using the new biomarker can now:

  • prevent irreversible neurological damage
  • avoid the need for extensive clinical investigations in search of alternative aetiologies
  • substantially reduce treatment costs.

Diagnostic kits for TG6 autoantibodies, as well as several other products relating to intellectual property on TG6, are distributed through a biotech company, Zedira.


Meet our experts

Professor Daniel Aeschlimann

Director of Research, Professor of Biological Sciences

Email:
aeschlimanndp@cardiff.ac.uk
Telephone:
+44 (0)29 2074 4240

Selected publications