Although there is no known cure for multiple sclerosis (MS), there are treatments that can help prevent new attacks and improve function after an attack. However, there are three subtypes of the disease and determining this, as well as the appropriateness and effectiveness of a patient's current treatment, involves an array of expensive, time-consuming tests. Now, after a search lasting 12 years, an international team of researchers has identified a biomarker that would allow MS subtypes to be determined with a simple blood test.
Currently, when patients are diagnosed with MS they face a wait before the subtype of the disease can be determined. During this time, they may receive medication that is ineffective for periods of weeks. The researchers say the biomarker blood test, which can determine the type of MS someone has with an accuracy of 85 to 90 percent, will allow doctors to adapt treatments faster.
"This is a significant discovery because it will facilitate the ability to quickly and simply make a prognosis of the three types of MS and will allow clinicians to adapt their treatment for MS patients more accurately and rapidly," says Professor Gilles Guillemin, a researcher at Australia's Macquarie University who oversaw the study.
It is also hoped the research could lead to the development of new therapeutics and more personalized treatments for those with the disease.
"The unique information that we will receive from the biomarker within an individual, means that it could also be possible develop biomarker guided personalized treatment for each patient," adds Dr Lim, the lead researcher of the study.
As the biomarker test involves tryptophan, which the researchers point out is known to be involved in brain inflammation, there is an expectation that it could lead to a greater understanding of other diseases caused by inflammation and neurodegeneration, such as Alzheimer's, Parkinson's and motor neurone disease (aka Lou Gehrig's disease).
The researchers are now working to develop a clinical blood test kit that could be available within as little as two years.
Their study appears in the journal Scientific Reports.
Diagnostic blood test shows promise in early detection of Parkinson's
Early detection of Parkinson's could help doctors decide on treatment options or improve disease management. But often people get a neurological examination after symptoms appear, when vital brain cells have already been destroyed. Now a game-changing blood test is being developed to give doctors a reliable method to detect the disease earlier through clinical biomarkers.
The test is being developed at La Trobe University in Melbourne, Australia, to reveal abnormal metabolism of blood cells in people with Parkinson's. So far it has been trialed on a total of 38 people, 29 with Parkinson's and nine in a control group. Professor of Microbiology Paul Fisher at La Trobe has reported that the tests have proven very reliable.
The development of the blood test is the culmination of recent discoveries on the mechanisms of the disease. Scientists believe that neurodegenerative diseases like Parkinson's and Alzheimer's involve malfunction of cell mitochondria, the cells' energy factories. About 10 years ago, Fisher and his lab team discovered that symptoms in conditions linked to defective mitochondria could be caused by an "always on" alarm system in the cells.
The discovery revealed that these diseases were connected to a signalling disorder and not an energy insufficiency, as previously thought. Fisher and his team demonstrated this process and showed that in the case of Parkinson's, the patient's cells become hyperactive, leading to an increase of the production of toxic oxygen by-products. Over time, these damage vital cells in the brain.
The researchers say that the development of the blood test may allow doctors to reliably detect the abnormal metabolism of blood cells in people suffering from Parkinson's, allowing treatment options to be provided much earlier. It could also lead to detection tools for other neuro-degenerative disorders, such as Alzheimer's.
La Trobe has now received $640,000 in funding from the Michael J. Fox Foundation for Parkinson's Research and its funding partner, Shake It Up Australia Foundation, to extend the study. Upon completion of the next stage in development, the study sample will include a total of 100 subjects, 70 with Parkinson's and a control group of 30.
Further study of the differences in blood cells from Parkinson's patients and healthy control groups could result in a better understanding of the disease's underlying mechanisms.
The team estimates that the diagnostic blood test could be available within the next five years if additional funding to speed up its development is secured.
Cancer drug that inhibits porcupine enzyme could help hearts
Inside our bodies, compounds known as Wnt proteins are something of a double-edged sword. When functioning normally, they help with tissue regeneration, such as that which takes place in lining of our guts or at injury sites. When they go haywire however, they can lead to cancer. Researchers from the University of Texas Southwestern (UTSW) were examining the role these compounds have in cancer when they made a serendipitous discovery just might help damaged hearts repair themselves.
Specifically, the researchers were looking at inhibiting an enzyme that stops Wnt proteins from being created. That enzyme is known as porcupine enzyme (PORCN) because fruit flies that lack the gene to produce it resemble the quill-covered mammal. While conducting testing on their enzyme inhibitor, the researchers saw some negative effects, but also a surprisingly positive one as well.
"We saw many predictable adverse effects – in bone and hair, for example – but one surprise was that the number of dividing cardiomyocytes (heart muscle cells) was slightly increased," said Dr. Lum, senior author of the paper, and a member of UTSW's Hamon Center for Regenerative Science and Medicine. "In addition to the intense interest in porcupine inhibitors as anticancer agents, this research shows that such agents could be useful in regenerative medicine."
To further explore this dual role of the inhibitor, they induced heart attacks in mice and then treated them with the compound. Sure enough, the hearts in the affected mice were able to pump blood twice as effectively as those left untreated after the heart attack. They also found that the compound reduced scarring in the heart.
This is especially significant because heart muscle cells don't regenerate like other cells in the body and, after cardiac arrest, the heart can be left permanently scarred and weakened. If the new compound could reverse part of that process, patients who suffer heart attacks could have a better prognosis. What's more, Lum said that the inhibitor could likely be administered for a short period of time after a heart attack to allow a patient to reap its benefits without incurring unpleasant side effects.
"We hope to advance a Porcn inhibitor into clinical testing as a regenerative agent for heart disease within the next year," he added.