12:56am Sunday 08 December 2019

Pilot study paves way for early diagnosis of Motor Neurone Disease

New research has shown that measuring copper concentrations and isotope ratios in blood and other tissue may allow early diagnosis of Motor Neurone Disease (MND).

At present, there is no test for this devastating neurodegenerative disease (also known as Amyotrophic Lateral Sclerosis or ALS) in which motor neurons undergo progressive degeneration and die, meaning that the illness needs to progress before care can begin.

PhD candidate T. Gabriel Enge, from UOW’s Faculty of Science, Medicine and Health, will present the work at International Conference of Environmental Geochemistry and Health in Brussels, Belgium, next week.

As part of a pilot study led by Associate Professor Anthony Dosseto (pictured) in conjunction with chemist Professor Di Jolley and Associate Professor Heath Ecroyd, and Dr Justin Yerbury from the Illawarra Health and Medical Research Institute, Mr Enge measured the association between the disease and lifetime changes in trace copper, iron, and zinc concentrations in tissues of MND-affected mice and in healthy controls.

He was able to show that copper and zinc concentrations increased in the spinal cord and muscle of the MND mice. Significantly, this increase emerged prior to the appearance of clinical symptoms, although it is not known if these changes are a cause or a consequence of the disease.

In addition, blood samples taken from MND-affected mice showed subtle differences in their copper isotope ratio (65Cu/63Cu) compared to that of blood from healthy mice. As these differences preceded the onset of symptoms, testing this approach on human subjects could open the way for the development of a blood-based test which would be able to indicate the presence of disease effects before clinical symptoms appear.

Professor Dosseto, who will also discuss this work at the Goldschmidt conference in Japan today, said the onset of MND might be so subtle that the symptoms are overlooked and the need for an early diagnostic test is urgent.

“While this work is only preliminary and applies to a specific mouse model of MND, it is the first of its kind on this pathology and brings hope that one day we could use isotopic measurement in blood samples as an early detection tool of the disease.”

By Elise Pitt

Source: University of Wollongong

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