Mutant Protein in Muscle Linked to Neuromuscular Disorder

A press release from U.C. – San Diego provides a new glimmer of hope in determining the cause and possible treatment of Kennedy’s Disease (SBMA).  The actual link to the article is: 
http://health.ucsd.edu/news/releases/Pages/2014-04-16-mutant-protein-linked-to-sbma.aspx

An excerpt of the article is shown below: 

A new therapeutic target for Kennedy’s disease and a potential treatment  

In the new paper, a team led by principal investigator Albert La Spada, MD, PhD, professor of pediatrics, cellular and molecular medicine, and neurosciences, and the associate director of the Institute for Genomic Medicine at UC San Diego, propose a different therapeutic target. After creating a new mouse model of SBMA, they discovered that skeletal muscle was the site of mutant protein toxicity and that measures which mitigated the protein’s influence in muscle suppressed symptoms of SBMA in treated mice, such as weight loss and progressive weakness, and increased survival.    
 
In a related paper, published in the April 16, 2014 online issue of Cell Reports, La Spada and colleagues describe a potential treatment for SBMA. Currently, there is none.
 
The scientists developed antisense oligonucleotides – sequences of synthesized genetic material – that suppressed androgen receptor (AR) gene expression in peripheral tissues, but not in the central nervous system. Mutations in the AR gene are the cause of SBMA, a discovery that La Spada made more than 20 years ago while a MD-PhD student. 
 
La Spada said that antisense therapy helped mice modeling SBMA to recover lost muscle weight and strength and extended survival.  
 
“The main points of these papers is that we have identified both a genetic cure and a drug cure for SBMA – at least in mice. The goal now is to further develop and refine these ideas so that we can ultimately test them in people,” La Spada said.

The Dragon Speaks

Two years ago, I wrote about a speech recognition program that was part of Windows 7. I experimented with this program for several months. Even though it was adequate, it just wasn’t what I was looking for.

This last winter, I experienced more problems with my hands and fingers than in past years. Typing became more difficult especially after I came in from the cold. In February, CostCo offered Dragon Naturally Speaking software for sale on their website.

I was interested and went to Nuance’s website and read:

Stop typing and start doing …

• Dragon is the world’s best-selling speech recognition software. It turns your talk into text and can make virtually any computer task easier and faster. From capturing ideas and creating documents, to email and searching the web, to using simple voice commands to control many of the popular programs you use every day at home, work – and beyond.

Even though Nuance advertises that Dragon is 99% accurate right out-of-the-box, I was a skeptic. Yet, I had a need and this program might be a solution. For that reason, I decided to gamble. A month ago I bought a copy of Dragon Naturally Speaking-Home (ver. 12.5) for $50.00.

First Experiences: I didn’t like the headset that Dragon provided. I found the FreeTalk ‘EasyMan’ USB headset that I use for Skype calls to be far more accurate and comfortable. It took about 30 minutes to install and set up and train the program. Even though I have no way of determining the 99% accuracy, it sure was close. Like any program, the more you use Dragon, the easier it is to use. Dictating within Dragon is relatively easy. Remembering all the navigation and editing commands that allow you to use the full power of Dragon, however, takes a little more time. Fortunately, a cheat sheet is provided as well as several tutorials. Yes, there are still moments where using the keyboard is actually faster. Yet, the more I use Dragon, the less I use the keyboard.

The program works with Microsoft Outlook, Word and Excel as well as many other programs including Gmail. Three browsers are also currently supported (Internet Explorer, Firefox and Chrome). With a little experimenting, I found that it also works with several other programs including Microsoft OneNote. For people using ‘smart phones’, there is also an app that allows you to dictate and transfer the file to your PC or Mac.

Conclusion: After using Dragon for a month, I find it difficult to compare to the Windows 7 speech recognition program. The Windows 7 program feels more elementary while Dragon feels much more capable and fun to use. I base this comment more on the start-up curve, ease of use, and accuracy of Dragon.

Is Dragon for everyone? No, not necessarily. Yet I have found it to be a helpful, fun and comfortable program to use. I also believe that the more that I use Dragon, the better the tool it will become. In fact, 99% of this blog article was written using Dragon.