In fluke experiment, espresso quells rare genetic disease

(Shutterstock photo)
Updated 11 June 2019

In fluke experiment, espresso quells rare genetic disease

  • ADCY5-related dyskinesia is a roughly one-in-a-million disease, and there is no known cure
  • The condition is also known as facial myokymia, and is sometimes misdiagnosed as cerebral palsy

PARIS: A lot of people say they cannot live without coffee, but for one 11-year-old boy living in France, that may be literally true.
When his parents accidentally bought decaffeinated capsules recently, a rare genetic muscular disorder — which they knew could be held in check by two shots of espresso per day — flared up, provoking uncontrollable and painful muscle spasms.
Four days of agony, anguish and doctor’s visits followed before his parents realized their mistake.
Once the boy started drinking the caffeinated brew again, the symptoms subsided.
“It’s one of those amazing cases of serendipity that dot the history of medicine,” said Emmanuel Flamand-Roze, a doctor at Pitie-Salpetriere Hospital in Paris and lead author of a study published Tuesday about the disease afflicting his patient.
Unwittingly, Flamand-Roze told AFP, the parents had carried out what scientists called a double-blind placebo experiment — the most rigorous test possible to see if a drug or treatment actually works.
The “double blind” part means that neither the patient nor the persons carrying out the experiment know whether the medicine is the real thing or an inert fake.
In this case, the accidental test proved the efficacy of caffeine as a treatment of dyskinesia — a family of disorders characterized by violent, involuntary muscle movements — caused by a mutation in the ADCY5 gene.
“The arms, legs and face all move wildly,” Flamand-Roze explained.
“This child couldn’t ride a bike, walk home from school, write with a pencil — a seizure-like crisis could strike at any time.”
ADCY5-related dyskinesia is a roughly one-in-a-million disease, and there is no known cure.
The gene in its normal state provides instructions for making an enzyme that helps to regulate muscle contraction.
The mutation disrupts that process, and caffeine helps to restore it.
Doctors had long known that strong coffee helps quell the muscle spasms, but the condition is so rare that there are not enough patients to conduct an experiment in which one group take the “medicine,” and another imbibes a look-alike — in this case, a taste-alike — placebo.
Such an experiment would, in any case, probably raise ethical issues, since researchers would know ahead of time that the placebo group would likely suffer severe discomfort.
The condition is also known as facial myokymia, and is sometimes misdiagnosed as cerebral palsy.
The symptoms typically appear as sudden jerks, twitches and tremors, and writhing, and usually begin between infancy and late adolescence. The movements can occur during waking hours or at night.
The problem can also strike internally with the respiratory muscles.
The study was published in the US-based Annals of Internal Medicine.

As Saudi Arabia gears up for K-pop’s Super Junior we ask ‘what’s the draw?’

Updated 40 min 25 sec ago

As Saudi Arabia gears up for K-pop’s Super Junior we ask ‘what’s the draw?’

  • K-pop favorites Super Junior will hit the stage in Jeddah in July
  • This catchy pop genre has seen several false starts

JEDDAH: It is just weeks to go before one of K-pop’s best-known groups, “Super Junior”, take to the stage in Jeddah, adding them to an ever-increasing hall of fame as the Kingdom continues on its wave of modernization.

It wasn’t that long ago that fans of K-pop were seen as the odd ones out, but now they represent an increasingly large group of devotees across the globe.

K-pop music, a versatile genre of music, accompanied by an explosion of bright colors, flashy choreographed dancing and catchy beats, has fans as young as 10 captivated.

But what has made this once widely mocked genre turn from a freak show into one of the world’s most successful styles of pop music and why is it so popular in the Kingdom? Arab News spoke to fans to find out.

Local online shops and social media accounts in Saudi Arabia are slowly increasing merchandise of Korean goods including clothing, fan art, band merchandise and much more. 

Even Saudis living abroad in Korea have got involved and are pushing the K-pop message through their social media accounts, drawing in younger recruits to this increasingly popular phenomenon.

College student Yasmin Noor, 19, who has been a fan for four years said: “I got into K-pop when I was 15. When I stumbled across Choi Siwon from “Super Junior” on the internet, I wanted to know more about him. After that I wanted to know about Korea and their culture.”

How K-pop's global interest grew

Boy – and girl - bands are not a new phenomenon, K-pop is riding the crest of a rather big tried and tested wave.

But while most of the groups that preceded this genre are from western countries and sing in English, K-pop bands have largely stayed loyal to their roots, singing in their native tongue – although not always.

Even the United State’s Rolling Stone magazine joined the debate surrounding the genre’s growing popularity around the world, suggesting that interest in Korean pop music first began in 2012 with Psy’s “Gangnam Style,” but he was seen as an amusing gimmick.

Then there was a series of highly polished girl groups that hit the stage, including “Wonder Girls” and “Girls Generation,” who came backed with vast productions and massive budgets which promptly flopped, failing to capture the imagination of the essential US audience.

But why did they fail? Rolling Stone suggested it might be these groups simply “tried too hard.”

Super Junior backstage at their concert 'Super Show' (Photo Courtesy: Social media)

Now K-pop has dared to cross the boundaries and, with groups like BTS, started to encompass Western styles, while maintaining its Korean origins, delivering a more upbeat, feel good positive style that is starting to capture the attention of the US.

It didn’t matter that groups were singing in Korean, when the sound had something that sounded reassuringly similar but was uncharacteristically uplifting.

And it’s not just the US where K-pop is proving a vast success, it seems the Gulf region loves it too.

Social media was always going to help

Saudi-based life coach and HR officer, Nora Alrifai, 27, said: “The appeal for me was how some songs moved my heartstrings even though I didn’t understand anything they were saying.”

And her fascination with Korea didn’t stop there, she said the country’s local TV dramas have also been a serious draw as her love of Korean media continues to grow.

K-pop’s recent success around the world has caught many by surprise, but the brand’s normalization into such a competitive market could be, in part, due to collaborations with western acts.

But Alrifai believes social media has played a big part.

“Due to the globalization and the excessive use of social media, the world is becoming a global village and everyone has access now to other cultures and their art,” she said.

Rowaida Fuad, the chef behind Sakura Topia, a restaurant that serves authentic Korean and Japanese food said she was initially a K-Pop fan: “I got into K-Pop when I was in university in 2005. At that time it was becoming famous among students who had internet access.”

One of the biggest online K-pop communities “Soompi,” which started in 1998, boasts a user base of 22 million and still growing, with the vast majority being from around the globe and not Korean.

And there’s evidence, Rolling Stone suggested, that its millions of users are spending hours translating lyrics and analyzing the videos which accompany to catchy tracks.

Yasmin Noor recalled how she first discovered the colorful world of K-pop, she said; “What made me like them was definitely their dancing skills and the most impressive of all was the production value that goes into their music videos.”

“Super Junior” will perform in Saudi Arabia at the Jeddah Season on July 12, and fans are eagerly awaiting the announcement of the tickets, a first of its kind in the Kingdom that will surely not be the last.