What is exon skipping?
If you imagine that the gene is made up of segments (or exons) which ultimately spliced together to make a recipe or message for producing the protein:
A deletion of exon 71 would be considered “in frame” because the 70 and 72 could still joint up and allow transcription. However, a deletion of exons 48 through 50 would be “out of frame” since 47 and 51 do not splice back together to form the message:
The message would become corrupted and the gene product, in this case dystrophin, would be dysfunctional or even totally absent:
The drug Eteplirsen will link 47 and 51 back together again, and in so doing restore the reading frame and facilitate transcription of an altered but hopefully functional gene product:
Does it work?
A clinical study started in August 2011
The preliminary results from this study were very encouraging – the boys who received the drug maintained strength and walking ability and there were no treatment related adverse effects.
What’s the next step?
The device, which is similar to an electric toothbrush, consists of a detachable spoon, a motion-generating platform, a controller/sensor, and a rechargeable battery. It detects the frequency of the patient’s tremor, and then counteracts that motion, to keep the spoon stable.
Patients in the study still had tremor, but they were less likely to spill their food when eating with the spoon.
The device is now commercially available, and costs around $295.
Posted by Vanessa Fabrizio, MSIV Drexel University College of Medicine
FOOTBALL: the most popular sport in America. Little boys dream of growing up and playing in high school, then college, then hopefully the NFL. Even little girls dream of dating football players in school or marrying a NFL superstar.
Those who have never played football can pour money into the sport by simply watching it on TV or more drastically via sports betting. With advancements in the sport and the increasing athelticism of the players, the injury risk has drastically increased while the lifetime of a player in the NFL has decreased. More attention is being brought to the media about concussion and their long term sequelae in professional athletes, yet not enough people question how well the helmets are actually working.
Concussion: a mild traumatic brain injury that leads to a temporary loss of brain function. Symptoms of a concussion are commonly headaches, dizziness, nausea, vomiting, difficultly on ones feet and balancing, and loss of fine motor coordination. Other symptoms can include light sensitivity, blurry vision, tinnitus, and can even produce seizures. Most individuals who experience a concussion will also experience post-traumatic amnesia and experience difficulty paying attention and disorientation. Post concussive syndrome exists and these symptoms can linger for months affecting lifestyle in many ways.
Treatment for concussion is typically and simply rest. Avoiding head trauma is key to recovery.
Football is not the only sport where its players experience concussions. Boxing is an extremely dangerous sport and many of its victims experience neurological deficits due to their involvement. Soccer, basketball, volleyball, softball, and baseball to name a few all have increased risks of concussions greater than the general public.
This video demonstrates that not only professional players are at risk as it shows a 12yr old on the wrong end of a “hard hit”.
Recently an article in the LA times was published that talked about how the American Academy of Neurology is currently studying the effectiveness of different football helmets on the market today and how well they decrease concussion rates. The research that will be presented is showing that no helmet on the market today is actual effective in preventing concussions. However, it appears that the helmet this study rated as number 1, was rated last in a study at Virginia-Tech Wake Forest University School of Biomedical Engineering and Sciences. Obviously this shows that our testing of how effective helmets work isn’t standardized yet or up to par. As mentioned above, the sport of football itself has advanced so now helmets need to advance and the testing of the efficacy of these new helmets need to advance as well.
Should we encourage children to stop playing football to prevent them harm? As an avid football lover myself, I think that this is not the solution. We need to continue to raise media attention in order to expedite the process of creating these newer, safer helmets. Education about concussions need to be taught to young athletes as well as appropriate tackling measures to ensure safety. The NFL association has been good about updating the rules and regulations of the game to ensure player safety with fines and penalties for unnecessary roughness and hits. Lets hope they continue this way and it continues to trickle down all the way to the peewee leagues.
CLick here to link to the LA times article.
We are trying to do a better job educating our patients about the warning signs of stroke, and that if they think they might be having a stroke they should act FAST and call 911 to get to the ER as soon as possible.
However, despite these efforts only 5% of US stroke patients get to the ER in time to receive clot busting therapy to treat their stroke. Furthermore, the quicker the drug is given, the better the outcome, TIME IS BRAIN!
We would like to see patients getting treated within one hour of the onset of their stroke, but because of the time it takes to get to the hospital and get evaluated in the ER this is rarely possible.
A pilot study in Texas is looking at getting stroke therapy administered faster by bringing the ER to the stroke patient.
The project brings a mobile CT scanner and a stroke neurologist (via telemedicine) to the patient in a specially equipped ambulance. The investigators hope to see stroke patients getting treated faster and improved outcomes.
Click here to find out more about one of the patients featured in this story.
Come to one of our trigeminal neuralgia support group meetings – check the Neuroscience Events Panel on the right side of the page.
Cabin fever is a state of restlessness, depression and irritability brought on by an extended stay in a confined space or a remote and isolated area.
The term was first used to describe early U.S. settlers who experienced long winters snowed in alone in their log cabins – a well known example is the Montana winter of 1886-7 when snow fell every day from November through the end of February, cattle froze in place on the range, and ranchers ran short on coal, flour and wood.
In 1915, polar explorer Sir Ernest Shackleton and his men made camp on a drifting ice floe in the so-called voyage of endurance for three months after their ship sank. The 28 men lived in crowded tents. Shackleton later wrote: “Day by day goes by, much the same as one another, We work; we talk; we eat. … The two subjects of most interest … our rate of drift and the weather.”
The term has also applied to mental illness occurring on long oceanic voyages, after passengers and crew have endured long trips in small, cramped quarters below the deck of a ship
The mental anguish of cabin fever will often end in violence. In 1959 a Russian at a Soviet Antarctic base murdered a colleague with an axe after losing a game of chess. Following this, the Soviet authorities prohibited cosmonauts from playing chess!
Probably the best known case of Cabin Fever affected author Jack Torrence in Stephen King’s novel and film, The Shining, while snow bound with his family in an old hotel.
As the winter progresses, Jack becomes more and more unhinged, until he finally attempts to kill his wife and child.
What do you do if you think you are getting Cabin Fever (aside from trying to kill your wife an family)? …………… Get Out of the House if you can – for exposure to daylight exercise. Maintain Normal Eating Patterns – try not to overindulge in junk food or skip meals altogether. Set Goals – set daily and weekly goals, and track your progress toward completion. Use Your Brain – although TV is a distraction, it is also relatively mindless, stimulating your mind can help keep you moving forward and reduce feelings of isolation and helplessness.