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Genetic mutation may combat age-related diseases

Researchers have found a potential key to unlocking age-related diseases through a gene mutation.

By
Amy Wallace
Scientists have identified a genetic mutation that has the potential to prevent age-related diseases such as heart disease, arthritis and dementia. Photo by linerpics/Shutterstock
Scientists have identified a genetic mutation that has the potential to prevent age-related diseases such as heart disease, arthritis and dementia. Photo by linerpics/Shutterstock

SURREY, England, Dec. 15 (UPI) -- Researchers in England have found it may be possible to stop the activation of a group of proteins known to be responsible for most of the diseases related to aging.

Chemists from the University of Surrey in conjunction with the Universities of Reading and Cologne, and the Royal Berkshire Hospital, have found the key to a single nucleotide polymorphism, a natural genetic mutation in humans, that may protect against heart disease.

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The findings could pave the way for the development of drugs to prevent age-related diseases like heart disease, diabetes, arthritis and dementia.

The study has found that the natural gene mutation single nucleotide polymorphism prevents the activation of NADPH Oxidase, a protein complex that attacks blood vessels, the heart lining, joints and the brain when put under metabolic stress, which in turn contributes to these diseases.

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However, NADPH Oxidase proteins play an important role in helping cells "talk" to each other and are necessary for people to live.

Researchers have figured out a way to stop the activation of the proteins without losing its vital role in maintaining human cells.

The identification of the single nucleotide polymorphism gene mutation will allow researchers to design drugs that would prevent the activation process during stress without affecting the function of the cell health.

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"This breakthrough could have a revolutionary impact on healthcare and individuals by tackling two of the key challenges in healthcare today; an aging population and a growing requirement for personalized medicine," Dr. Brendan Howlin, director of postgraduate research at the University of Surrey, said in a press release.

"Since the initial research, we have developing a series of drugs that prevent the activation process, and are now working on bringing these drugs to market."

The study was published in Circulation: Journal of the American Heart Association.

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