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A step forward towards early diagnosis of Parkinson’s disease

The National Institutes of Health is supporting a group of American researchers with a 3.6 million-dollar grant, which will help to develop a non-invasive diagnostic test for Parkinson’s disease.

Parkinson’s disease (PD) is a devastating disorder affecting both physical and mental functions. PD progresses slowly but firmly, leading to a full stop of gross motor functions and cognitive capabilities. The death of brain cells is the cause of this degeneration, but especially the death of dopamine-releasing brain cells. Dopamine-releasing neurons stop functioning due to several reasons, one of which is the accumulation of a protein called alpha-synuclein (aSyn). While the exact role of aSyn in health and disease is not completely understood, its role in PD has been well studied.

aSyn is part of a larger group of proteins, called amyloidogenic proteins. The name comes from the tendency of these proteins to form a misfolded structure (i.e., amyloidogenic structure).  Other proteins in the group are quite famous. To name a few: prions – leading to Creutzfeldt-Jakob disease and amyloid beta and tau proteins, which underly the pathology of Alzheimer’s disease and related dementias. The amyloidogenic structure is a non-functional, broken form of these proteins. It has many common structural and functional characteristics, with loss of function and physical accumulation in different cells being the most common ones. This broken form of aSyn stops the physiologic functioning of dopamine-releasing brain cells, leading to a lack of dopamine, disrupted signalling in the nervous system, and eventually, neuronal death.

While the warning signs of PD and similar disorders appear relatively late, the molecular process of aSyn accumulation starts early on in the disease. In fact, there is evidence that the toxic process starts tens of years before patients become symptomatic. Hence, it makes sense to develop a diagnostic test to quantify aSyn levels. Such a test will be able to determine whether a certain individual is prone to develop PD, and maybe, even when. In fact, there are tests aiming to answer these questions, but they have major disadvantages. For example, the current detection of aSyn is conducted by spinal fluid sampling. Needless to say, a qualified practitioner uses a needle to extract a small volume of sample, in an exhaustive and burdensome manner for both the patient and the medical system.

The National Institutes of Health recently announced that they will support the development of a “patient-friendly” diagnostic tool for PD by providing a 3.6 million US dollars= grant. This generous grant was awarded to Dr. Wenquan Zou from the Case Western Reserve University School of Medicine and his colleagues. Based on the preliminary results of their research, the current grant will support the development of a simple, non-invasive skin test aiming to detect and quantify aSyn levels. The advantages of such diagnostic tests are tremendous. To name a few, its easier to perform in comparison to the current tests, potentially more accurate, and can be easily done long before PD symptoms appear. Moreover, such a platform could open the door for similar developments to test for Creutzfeldt-Jakob disease, Alzheimer’s disease, and other related disorders.

In a recent press release, Dr. Zou further expands the explanation: “Ascertaining the presence, volume, and dispersion of the misfolded α-Syn proteins in more accessible specimens such as the skin can also be used for monitoring the progression of the disease and evaluating the effectiveness of new treatments”.

According to Dr. Zou hope is over the horizon: “We are hopeful that our findings will pave the way for painless, accurate, and early detection of a series of devastating neurogenerative diseases that are sure to escalate in number as the aging of the population continues and individuals live longer with chronic diseases”.

 

Written by Marina Chemerovski-Glikman, PhD

 

Reference:

Eurekalert news release: Major NIH grant will support early diagnosis of Parkinson’s disease via skin testing. Available from: https://www.eurekalert.org/pub_releases/2019-10/cwru-mng100419.php

Image by Darko Stojanovic from Pixabay

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