Motor Neuron Disease - Using Isotope Gives New Hope for Early Diagnosis

• Researchers move a step forward towards early detection of neurodegenerative motor neuron disease
• Measuring the concentrations of copper and isotope ratios in blood and other tissues may provide early diagnosis of motor neuron disease
• Currently, there is no known early detection method for motor neuron disease

Motor neuron disease (MND) has afflicted some of the greatest minds like Stephen Hawking, David Niven and Lou Gehrig, proving that this disease does not cripple brain functions but cripples the physical body. Till now, there has been no known method of diagnosis for this paralyzing condition and no early signs to watch out for, making this a dreaded disease. Since, anybody can be affected by this disease, and since the chances of getting this condition increase as the population ages, the need for early detection method will help delay further degeneration.

A pilot study by Anthony Dosseto and colleagues from the University of Wollongong, Australia has aided in moving a step closer to early detection of the condition. The study involved assessing the concentrations of

• Copper
• Iron
• Zinc

before the onset of the disease and during the disease for mice affected with motor neuron disease and among healthy controls.

Findings of the Study:

The results of this study showed that

• The levels of copper and zinc concentrations were increased in the muscle and in the spinal cord of mice with motor neuron disease.
• There were small changes in copper isotope concentration in the blood of mice with motor neuron disease compared with healthy mice.

The significance of these findings is that the trace element concentrations that were found to differ between mice with motor neuron disease and healthy mice is that they were detected even before symptoms set in.

It is unknown at this stage of the trial if the changes in concentration of the trace elements were what lead to the disease or were caused due to the onset of the disease. However, since the differences in concentration of the trace elements are detected even before the onset of symptoms, they would be ideal markers for early detection of the disease, providing a better chance at therapy.

Dr. Anthony Dosseto will be detailing this landmark study at the Goldschmidt conference being held in Japan.

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Dr. Dosseto says “ 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.”

University of Wollongong has been carrying out pioneering research on motor neuron disease. Earlier this year, researchers from the University found that a gene called CCNF was dysfunctional among people with motor neuron disease. Improper functioning of this gene leads to a build up of ‘junk’protein which can be detected and used as a marker of the disease.

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Such studies aid in improving diagnosis and treatment of motor neuron disease, providing hope for many.

References:

1. http://media.uow.edu.au/releases/UOW217437.html
2. Pilot study tests possible diagnostic tools for amyotrophic lateral sclerosis
   http://www.eurekalert.org/pub_releases/2016-06/gc-pst062616.php
3. http://media.uow.edu.au/releases/UOW212419.html

Source-Medindia