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Rare Neurodegenerative Disease Could Hold Information About Alzheimer’s and Parkinson’s Treatment

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Researchers from the Rutgers University, in the United States, have discovered possible new evidence regarding the two most common neurodegenerative diseases – Parkinson’s and Alzheimer’s disease. According to the study, the new evidence was found while researching the cause of a very rare childhood disease that eventually causes movement impairment in early adolescence.

The authors of the study are professor Karl Herrup, professor Ronald Hart, professor Jiali Li, and associate professor Alexander Kusnecov. Their study, published recently in the online edition of the journal Nature Neuroscience, also reveals new insight about the ataxia-telangiectasia (A-T) disease, which is also a neurodegenerative disease, also known as Louis“Bar syndrome. Previous research shows that almost 1 in every 40,000 births suffer from A-T. These children who are born with A-T suffer mutations in both of the ATM genes, thus suffering from a deficit of the ATM protein. Lack of a normal ATM protein leads to impairments in muscle control, equilibrium, movement, and coordination.

The researchers used both human and mouse brain tissue for their study. Their findings show that when there is not ATM protein, the levels of EZH2 (a regulatory protein), rise. Moreover, researchers have shown that the rise of the EZH2 protein is the main cause of the neuromuscular problems that affect the children suffering from A-T.

According to the research team, this study is the first to show that the EZH2 protein is involved in the alteration process of the muscles. Precedent studies have already linked the EZH2 protein to the gene on-off switching process. However, the current study, performed on mature brain cells, shows that high levels of EZH can also cause important adverse affects. Researchers investigated further and discovered that if the EZH2 protein levels were lowered, the A-T mouse models experienced better coordination, muscle control, and movement.

The laboratory mouse models with A-T, used in the study were cured of most A-T symptoms when the research team reduced the excess of EZH2. The cured mice were tested on a rotating rod, which showed similarities between the A-T mice and the normal, healthy control group. Furthermore, the research team investigated the results of the EZH2 reduction in an open space as well. A-T mice were reported to move and explore a smaller part of the open are, when compared to the normal mice.

Rutgers researchers suggest that their findings are waiting to be validated in a clinical trial. Working together with the Clinical Center at the Johns Hopkins University, in the United States, researchers begun collecting blood samples from children suffering from A-T, as well as blood samples from their parents.

Scientists believe that the new information that was discovered during this study can be used, in the near future, to create new efficient therapeutic drugs against A-T, that would reduce the neuromuscular and coordination deficits, at least. Furthermore, the research team will conduct new studies in order to determine whether or not the EZH2 protein plays a key role in other common neurodegenerative diseases, such as Parkinson’s and Alzheimer’s disease.