Published On: Fri, Jun 10th, 2016

‘Third gene’ leads to neurodegenerative disease



A research study has stated that scientists have exposed a ‘third gene’ that directs to the growth of the ordinary neurodegenerative disease.

The research study gave proof that mutations in gene TMEM230 can be a reason for Parkinson’s disease — a disorder of the central nervous system that affects movement, frequently involving tremors.

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Teepu Siddique,who is the lead author and professor at Northwestern University in the US, stated that “The study showed that mutations in this new gene lead to pathologically and clinically proven cases of the disease,”

The results illustrated that the gene is accountable for creating a protein included in packaging the neurotransmitter dopamine in neurons. Missing of dopamine-creating neurons is a defining feature of Parkinson’s disease.

In addition, the person with this gene mutation illustrated both clinical features of the disease — signs such as tremors, sluggish movement, and stiffness — and also pathological proof in the brain — missing of dopamine neurons and irregular accumulations of proteins within surviving neurons.

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Siddique added that “This particular gene causing Parkinson’s disease is not just limited to one population in North America,” Siddique continued that “It’s worldwide, found in very different ethnic and environmental conditions. These mutations are that strong,” additional, TMEM230 was as well discovered to encode a protein that expands crosswise the membrane of tiny sacks within neurons named synaptic vesicles, which amass neurotransmitters prior to they are discharged from one cell to another. The scientists hypothesized that the protein is included in the movement of these vesicles.

Han-Xiang Deng, who is the professor at Northwestern University, stated that “We believe that vesicle trafficking defects are a key mechanism of Parkinson’s disease, not just for cases with this mutation, but a common pathway for the majority of cases,” they further added that “Our new findings suggest normalizing synaptic vesicle trafficking may be a strategy for future therapeutic development. We can develop drugs to promote this critical pathway,” Deng stated in the paper cited in the journal Nature Genetics.

To conduct the research study — which prolonged for 20 long years — the researchers played genome-wide analysis on 65 members of a family — involving 13 with the disease — in expecting of discovering an ordinary mutation that could clarify the occurrence.

About the Author

Sidra Muntaha

- Sidra Tul Muntaha is a journalist (MA-Mass Communication and M.Phil in Mass Communication) based in Lahore. She is working as an editor at fashion, style and entertainment in the section of the Kooza. She writes fashion and entertainment articles for The Kooza News.