Clues from a Rare Brain Disease Might Solve the Pain in Your Knees and Extend Cell Life

New research into one of the most rare autoimmune diseases—called PHARC—could mean hope for people who suffer arthritis, the most common one.  

Your body reacts the same way to sudden injuries as it does to chronic diseases like arthritis. But what’s good for a skinned knee is bad for an arthritic one.

That’s because, when your body senses trouble, it sends white blood cells to the rescue. The extra blood flowing around the joint brings more oxygen to speed healing. The white blood cells themselves fight infection. But when the condition is chronic, this help is not needed. Instead, the rush of fluids raises pressure in the area and squeezes fluids into tissue. You turn red, swell, and hurt.

Now the proof piles up that inflammation and misdirected immunity also lead to burning pains in the feet, deafness, loss of muscle control, poor night vision, eventual blindness and cataracts caused by a rare disease known as PHARC. This is a disease you are extremely unlikely to suffer, but it brings insights that could do you good.

PHARC is so rare, most doctors don't know about it. But research on it may bring pain relief to the millions of us that don't have it.

Scientists at Scripps Research Institute have linked PHARC to the lack of a specific protein, ABHD12. Until this research, scientists were not sure what that the ABHD12 protein was for. Now they know it acts as a brake on the immune system to keep it from being overactive, and that's the discovery that could lead to help for millions of us with everyday afflictions like migraines and arthritis.

Eventually, the researchers hope their discoveries could help them develop drugs to target ABHD12, which most people have, in order to treat cancer and chronic viral diseases.

So far, they have tested their theory in mice with promising early results.

Arthritis is only one of the diseases that may benefit.

Scientists in India recently began working with ABHD12 processes for PHARC, too. They believe ABHD12 helps break down a lipid (fat) called phosphatidylserine. This chemical triggers cell death when your body produces too many reactive oxygen species (ROS). You are probably familiar with one important kind of ROS implicated in disease and aging—free radicals.

This discovery could eventually help us prevent some of the most feared diseases and widespread diseases of aging.

Benjamin Cravatt, the head researcher at Scripps says, “it is now known that the immune system plays a big role in many brain diseases including neurogenerative diseases such as Alzheimer's and Parkinson's.”

Cravatt adds that “there have also been hints of immune involvement in developmental brain disorders such as autism and schizophrenia.” 

The implications of this work go far beyond helping the small group of people that suffer from a rare genetic disorder. Until this work began, nobody know what the ABHD12 gene did. Now, knowing that, scientists should be able to find ways to help it work better.

This is news to watch. Even though there is no drug to create the ABHD12 protein in people who lack it yet, there are things you can do to maintain good health by supporting this gene and other body processes that control reactions to injury and inflammation.

That’s because, if a new drug is developed from this work, its action would likely mimic several natural healing agents that control inflammation such as boswellia, bromelain and turmeric.

Natural anti-inflammatories like these are known to be safe, and for most of us, they work miracles of their own.

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