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One Gene Mutation Links Three Mysterious, Debilitating Diseases

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On a good day, my shoulders, knees, and hips will dislocate two to five times apiece. The slightest bump into a table or door will bloom new bruises on my arms and legs or tear a gash in the thin skin on my hands. My blood pressure will plummet each time I stand, making me feel woozy, nauseated, and weak. I’ll have trouble focusing and remembering words. I’ll run my errands from underneath an umbrella to prevent an allergic reaction to the Sun.

I have Ehlers-Danlos Syndrome (EDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS)—a trifecta of weird diseases. POTS, EDS, and MCAS are so obscure that many doctors have never even heard of them. But a 2016 study published in Nature Genetics might help change that: Researchers have found a genetic mutation that links all three conditions.

There are at least six types of EDS, all caused by defective connective tissue. I’ve got the most common form, Hypermobility Type (EDS-HT), also known as EDS-III. EDS-HT is considered the most “benign” form—that is, it’s generally not fatal—but the chronic pain, injuries, and other symptoms it causes can easily take over a person’s life.

POTS is a form of dysautonomia, or dysfunction of the autonomic nervous system (ANS). The ANS manages all the things your body does without thinking, from breathing and pumping blood to digesting food. My POTS is pretty mild; at the moment, the hardest parts are the fatigue and the cognitive issues caused by decreased blood flow to my brain. Other people are not so lucky and may need feeding tubes or constant bed rest.

MCAS, also called Mast Cell Activation Disease, is the newest and potentially the trickiest of the three. Mast cells are generally heroes in the body, helping keep the immune system alert and responsive. But some people have paranoid mast cells that can perceive just about anything (foods, medications, temperatures, deep breathing) as a threat. And when they go off, there’s no telling what will happen; researchers have implicated mast cell activation issues in dozens of symptoms and conditions, from anaphylactic shock to irritable bowel syndrome as well as dysautonomia and connective tissue problems.

People who have EDS-HT often also have POTS or MCAS or both, yet the relationships between the three remain murky. Some scientists think EDS causes POTS. Others think MCAS causes POTS and EDS. But we don’t really know, because there’s been barely any research on any of them. It’s hard to study conditions that look different in every patient (I've never met anyone else with one of these conditions who has a sunlight allergy) and have few, if any, quantifiable symptoms. Another reason for the lack of scientific interest? All three conditions are far more common in women, a trait long associated with meager research funding and minimal medical concern.

Consequently, there are no FDA-approved tests for these diseases, and there are certainly no cures. People with EDS-HT wear joint braces to reduce dislocations and are taught to manage their pain. People with POTS are prescribed beta blockers, high-sodium diets, and compression gear to keep up their blood pressure. People with MCAS are given antihistamines.

EDS-HT is typically passed from parent to child, and scientists have found genetic markers for other types of EDS, so it’s not unreasonable to think that it could be caused by mutated DNA.

Fortunately, the cost of DNA sequencing has continued to drop, and clusters of researchers around the world are beginning to take a look. The latest study, led by Joshua Milner at the National Institute of Allergy and Infectious Diseases, involved 96 people with EDS-HT and mast cell issues. POTS symptoms were common, especially gut problems like Irritable Bowel Syndrome.

The study participants had another thing in common: higher-than-normal levels of a protein called tryptase in their blood. Tryptase is part of the immune system’s reaction and has been linked to a handful of core EDS-HT and POTS symptoms, Milner says.

"Tryptase can contribute to pain sensitivity," he told me. "It can contribute to blood vessels doing funny things, and it can contribute to how your connective tissue, your bones and joints, are made."

Most people with mast cell issues actually have normal levels of tryptase, so the group Milner and his colleagues tested represented just a small subset of mast cell patients. But that subset did seem to have a unique genetic signature: an extra copy of a gene called TPSAB1. Under normal circumstances, TPSAB1 makes a form of tryptase called alpha-tryptase. People with a double dose of the gene are getting a double dose of the protein, too.

Armed with this clue, the researchers then went back through thousands of patient records for healthy people. When they looked at the DNA results of people with high tryptase levels, they found that all of them also had the TPSAB1 mutation. The scientists then interviewed a number of these supposedly hearty specimens and found that all of them were living with symptoms that sounded suspiciously similar to those of EDS-HT, POTS, and MCAS. They'd just never been diagnosed. (This is unsurprising—the average time to diagnosis for a person with EDS-HT is 10 years.)

In short, Milner and his team had discovered a genetic biomarker for Ehlers-Danlos Syndrome. Now, EDS-HT is a very variable condition, and the few experts that do exist suspect it's actually a bunch of different diseases called by the same name. Still, this finding represents one possible clinical test for what has been an un-testable illness.

Alpha-tryptase is a funny thing. About 30 percent of people don't make it at all, and they seem just fine without it, which means that a potential treatment pathway for the EDS-HT/MCAS/POTS hat trick could involve simply shutting down the alpha-tryptase factory.

It’s "interesting work," says Lawrence Afrin, a hematologist at the University of Minnesota. He told me the study represents "early progress toward further unraveling these illnesses." And Afrin should know: he's one of the leading MCAS experts in the country.

He agrees that alpha-tryptase could be a promising avenue for treatment. "But if I've learned anything about [MCAS]," he says, "it's that it's incredibly complex. Hopefully, with another 10,000 studies, we'll make 10,000 more bits of progress."

In the meantime, people with EDS, POTS, and MCAS have found other ways to cope. Communities of patients have popped up in cities across the globe and all over Twitter, Tumblr, and elsewhere on the web. These illnesses can be incredibly isolating and lonely—but, as I've learned, none of us are alone.

If you recognize yourself or your symptoms in this story, read up on the basics of EDS, MCAS, and POTS, and brace yourself for an uphill battle.

"Find a local physician who’s willing to learn," Afrin advises.

"And try to be patient," Milner says. "I know it's hard, but stick with it. We're all figuring this out together."

Know of something you think we should cover? Email us at tips@mentalfloss.com.

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Bad Moods Might Make You More Productive
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Being in a bad mood at work might not be such a bad thing. New research shows that foul moods can lead to better executive function—the mental processing that handles skills like focus, self-control, creative thinking, mental flexibility, and working memory. But the benefit might hinge on how you go through emotions.

As part of the study, published in Personality and Individual Differences, a pair of psychologists at the University of Waterloo in Canada subjected more than 90 undergraduate students to a battery of tests designed to measure their working memory and inhibition control, two areas of executive function. They also gave the students several questionnaires designed to measure their emotional reactivity and mood over the previous week.

They found that some people who were in slightly bad moods performed significantly better on the working memory and inhibition tasks, but the benefit depended on how the person experienced emotion. Specifically, being in a bit of a bad mood seemed to boost the performance of participants with high emotional reactivity, meaning that they’re sensitive, have intense reactions to situations, and hold on to their feelings for a long time. People with low emotional reactivity performed worse on the tasks when in a bad mood, though.

“Our results show that there are some people for whom a bad mood may actually hone the kind of thinking skills that are important for everyday life,” one of the study’s co-authors, psychology professor Tara McAuley, said in a press statement. Why people with bigger emotional responses experience this boost but people with less-intense emotions don’t is an open question. One hypothesis is that people who have high emotional reactivity are already used to experiencing intense emotions, so they aren’t as fazed by their bad moods. However, more research is necessary to tease out those factors.

[h/t Big Think]

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7 Reasons Why You Should Let Your Kid Get Bored This Summer
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No matter how excited kids are for summer break, after a few weeks without school, they can start to feel a little bored. But as a parent, you shouldn't drive yourself crazy scheduling playdates, lessons, and other organized activities for your restless progeny. Instead, turn off the iPad, put down the camp brochure, and let them sit around the house moaning “I'm bored”—it can be good for them.

1. BOREDOM PROMOTES CREATIVITY ...

Research suggests the experience of boredom can lead to greater creativity because it allows minds to wander. In one 2014 study, researchers asked a group of participants to undertake boring activities like copying down telephone numbers from a directory. Then, they were tested for creativity—they had to come up with as many uses for a pair of foam cups as they could think of. The participants who had endured the boring tasks ended up thinking up more uses for the cups than those who hadn't. Boredom, the researchers wrote, "can sometimes be a force for good."

This isn't an entirely new idea. Another study conducted in Canada in the 1980s provides further evidence that boredom isn't always a bad thing: It found that kids who lived in towns with no televisions scored higher on imagination-related tests than kids who had TVs. Imagine what disconnecting from all of the screens available now could do for a kid's creativity.

2. ... AND MAKES THEM MORE INDEPENDENT.

Boredom can force kids to generate their own ideas about what they'd like to do—and what's feasible—then direct their own activities independently. "If parents spend all their time filling up their child's spare time, then the child's never going to learn to do this for themselves," Lyn Fry, a child psychologist, told Quartz in 2016. "Being bored is a way to make children self-reliant."

3. BOREDOM FOSTERS PROBLEM SOLVING.

In The Boredom Solution: Understanding and Dealing with Boredom, teacher and author Linda Deal advises that it's important to let kids learn to deal with their boredom themselves because it helps them learn to make decisions about how to use their free time. They need to learn to "see the problem of boredom as one within their control," she writes, which can help them come up with constructive ways to solve it rather than simply getting hopeless or angry about it, as kids sometimes do in situations they don't have control over. Kids learn that boredom isn't an insurmountable obstacle.

4. IT MOTIVATES THEM TO SEEK NEW EXPERIENCES.

In a 2012 study published in Perspectives on Psychological Science, researchers sought to define what, exactly, boredom is. "At the heart of it is our desire to engage with the world or some other mental activity, and that takes attention," co-author Mark Fenske, an associate professor at the University of Guelph, explained at the time. "When we cannot do this—that seems to be what leads to frustration and the aversive state we call 'boredom.'" When kids (and adults) are bored, especially with activities that were once engaging, they're motivated to try new things.

5. BOREDOM CAN HELP THEM MAKE FRIENDS ...

According to a pair of psychologists from Texas A&M University, boredom might have a social role. They argue that it "expresses to others that a person is seeking change and stimulation, potentially prompting others to respond by assisting in this pursuit." Being bored can push kids to go out and be more social, and have fun through activities. When there's not much to do, hanging out with the new kid down the block (or even your little brother) suddenly seems a lot more appealing.

6. ... AND FIGURE OUT THEIR INTERESTS.

Both at school and at home, kids are often required to participate in a range of activities. Having the time and space to do nothing can help kids figure out what they actually like to do. "Children need to sit in their own boredom for the world to become quiet enough that they can hear themselves," psychologist Vanessa Lapointe writes at the Huffington Post. This downtime allows kids to direct their own activities without adult input. Pressed to come up with their own entertainment, they might discover a love of writing plays, baking cookies, biking, crafting, or perfecting their jump shot.

7. IT CAN HELP THEM FIND MEANING IN THEIR LIVES.

According to one 2011 study, boredom forced people to reflect on meaning in their lives, prompting them to seek out meaningful activities like donating blood. While the study only examined adults, who may be more inclined to search for purpose, boredom can nonetheless push kids to undertake activities they might otherwise find unappealing—whether that means helping out with the dishes or agreeing to go volunteer for the day—or could even inspire them to make the world a better place.

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