Tuesday, July 21, 2009

Auction Items the 6th Annual Event

Take a look at these wonderful items & please support our local artists!!

A Big thanks again to each generous artist for their donation - your art will help us fund important Facioscapulohumeral Muscular Dystrophy research.

Look here at the many generous Donations for Northwest Artists (view flickr photostream)

Doug Landreth donated this beautiful Photographic piece - Bullfighter
Take a look around Doug's website to learn more about this award winning photographer & his artwork.

BellaLuz Luminettes - Beautiful Toucan Nightlight
visit her website to learn more about this artist & her work at www.bellaluz.com
Keep Checking Back to this blog as new items will be posted as they arrive .... I will do my best to post the artwork & the links to the artist's websites as they are donated. If you would like to make a donation for this year's event benefiting Facioscapulohumeral Muscular Dystrophy research - PLEASE contact me!!!

Depression: Quality of life & pain in patients with facioscapulohumeral muscular dystrophy.

Depression: Quality of life and pain in patients with facioscapulohumeral muscular dystrophy.

Muscle Nerve. 2009 Jul 16; 40(2): 200-205Padua L, Aprile I, Frusciante R, Iannaccone E, Rossi M, Renna R, Messina S, Frasca G, Ricci EThe aim of this study was to assess quality of life (QoL) and evaluate the occurrence and characteristics of pain in facioscapulohumeral muscular dystrophy (FSHD) patients. No study has yet assessed QoL in a large group of FSHD patients and, overall, few studies have assessed pain in neuromuscular diseases. We performed a prospective study using a multidimensional protocol including: clinical (according to the Clinical Severity Scale Rev1); genetic (p13E-11 EcoRI fragments Rev1); QoL (Short Form-36); pain (Visual Analog Scale and Portenoy-6 questions); and depression (Beck Depression Inventory) assessment. QoL measures of FSHD were compared with those of Italian norms. Moreover, we correlated QoL and pain measurements with clinical findings. Sixty-five patients were enrolled in the study. QoL was statistically significantly reduced with respect to the Italian normative sample, mainly in physical domains. Our study demonstrated that pain is frequent in FSHD patients. More than half of the patients complained of at least moderate pain. Women complained of slightly higher levels of deterioration in the emotional aspects of QoL than men. Clinical pattern (as assessed by Clinical Severity Scale) was closely related to physical QoL domains: the higher the clinical involvement, the more severe the QoL deterioration. This study provided information that may be crucial in clinical practice: pain may be a relevant aspect in FSHD patients, and prevention strategies or relevant therapies should be considered as appropriate. Moreover, we must pay more attention to gender differences: women can suffer far greater deterioration in the emotional aspects of QoL. Further multidimensional observations are needed.
Muscle Nerve 40: 200-205, 2009.

Sunday, July 19, 2009

Thanks Anya - Facebook Causes Helps FSH Research

Anya's Birthday Wish - To Help Fund FSH research!!

Wow! Just saw this on Facebook - in their "Causes" section. Take a look at this young girls wish to help her friend with Facioscapulohumeral Muscular Dystrophy.

And here is another, posted minutes later..... Please send them on to friends.

Always a new avenue to reach out and help that can be found by logging into the internet! Feel free to send me your suggestions & ideas of ways we can reach out to more people using the internet. The more people learn about FSH Muscular Dystrophy - the greater our ability to impact those affected by this degenerating condition.

Thursday, July 16, 2009

Abstract | Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation

Beatrice Bodega email, Gabriella Di Capua Ramirez email, Florian Grasser email, Stefania Cheli email, Silvia Brunelli email, Marina Mora email, Raffaella Meneveri email, Anna Marozzi email, Stefan Mueller email, Elena Battaglioli email and Enrico Ginelli email

BMC Biology 2009, 7:41doi:10.1186/1741-7007-7-41

Published: 16 July 2009

Abstract (provisional)


Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder associated with the partial deletion of integral numbers of 3.3 kb D4Z4 DNA repeats within the subtelomere of chromosome 4q. A number of candidate FSHD genes, adenine nucleotide translocator 1 gene (ANT1), FSHD-related gene 1 (FRG1), FRG2 and DUX4c, upstream of the D4Z4 array (FSHD locus), and double homeobox chromosome 4 (DUX4) within the repeat itself, are upregulated in some patients, thus suggesting an underlying perturbation of the chromatin structure. Furthermore, a mouse model overexpressing FRG1 has been generated, displaying skeletal muscle defects.


In the context of myogenic differentiation, we compared the chromatin structure and tridimensional interaction of the D4Z4 array and FRG1 gene promoter, and FRG1 expression, in control and FSHD cells. The FRG1 gene was prematurely expressed during FSHD myoblast differentiation, thus suggesting that the number of D4Z4 repeats in the array may affect the correct timing of FRG1 expression. Using chromosome conformation capture (3C) technology, we revealed that the FRG1 promoter and D4Z4 array physically interacted. Furthermore, this chromatin structure underwent dynamic changes during myogenic differentiation that led to the loosening of the FRG1/4q-D4Z4 array loop in myotubes. The FRG1 promoter in both normal and FSHD myoblasts was characterized by H3K27 trimethylation and Polycomb repressor complex binding, but these repression signs were replaced by H3K4 trimethylation during differentiation. The D4Z4 sequences behaved similarly, with H3K27 trimethylation and Polycomb binding being lost upon myogenic differentiation.


We propose a model in which the D4Z4 array may play a critical chromatin function as an orchestrator of in cis chromatin loops, thus suggesting that this repeat may play a role in coordinating gene expression.

The complete article is available as a provisional PDF. The fully formatted PDF and HTML versions are in production.

Monday, July 13, 2009

Activities that "the average person" take for Granted - A Major Challenge for those with FSHD

The Petition is Growing - Let's Make our Collective Voice be Heard!!

You can fill it out the petition online:

Here is one individual's note to President Obama regarding Facioscapulohumeral Muscular Dystrophy research funding -

Dear Mr. President:

This would be a great way to spend stimulus money. You'll be creating jobs here at home while also paving the way to a cure for our version of muscular dystrophy.

I was diagnosed with this disease over 10 years ago. We don't get a lot of press or air time on the Jerry Lewis Telethon because our version doesn't put most of us in a wheelchair. However, that shouldn't diminish the devastation this causes to our bodies. Things that the average person takes for granted become a major challenge for us. (walking, climbing stairs, changing a lightbulb) On top of the physical symptoms, we also have to deal with the mental anguish of knowing that there is not a cure. There isn't even a treatment to slow it down.

One of your campaign slogans was "Hope". That's all we are asking for. With an increase in funding you'll give a vast segment of the muscular dystophy population hope.

Thanks in advance.

It may be naive to think we can move those in Washington, but without trying we will never know - Please join this mission to impact the lives of those with this progressive condition.

With funding so very dear, and so very limited, there needs to be an effort to use our resources carefully & fairly. As you can see by reviewing the research funding history on the National Institutes of Health's website - FSH has received very little financial support.

Thursday, July 9, 2009

Causes on Facebook | Funding for Facioscapulohumeral Muscular Dystrophy Needed

Please sign our petition - send it out - join the movement.

Causes on Facebook | Funding for Facioscapulohumeral Muscular Dystrophy Needed

To: President Barack Obama and the United States Senate

We petition that…

FacioScapuloHumeral Dystrophy (FSHD) is the second most common form of Muscular Dystrophy (MD) in the adult population. Despite the more than 25,000 people affected by FSHD in the United States, FSHD research is seriously under funded by the National Institutes of Health.

We ask that the National Institutes of Health increase the funding for FSHD research and give hope to those who suffer from this devastating ailment!

Thank you,
The Undersigned

If you aren't part of facebook - You can click on this link to be part of this movement for FSH Muscular Dystrophy. Together we will make a difference!!

Thanks so very much!!

Tuesday, July 7, 2009

STP - Riding for Research - Become a Sponsor!!

Friends of FSH Research
Funding Facioscapulohumeral Muscular Dystrophy Research

STP - Seattle to Portland Bike Ride

Putting her Pedal to the Medal for FSH Research

"My name is Kalynn Dibble and I was diagnosed with FSH or Facioscapulohumeral Muscular Dystrophy 9 years ago. At the time doctors told me to curb all physical activity & find a desk job, because of the risk of accelerating muscle loss..... But, I love to ride so this year I really wanted to do something BIG to help support FSH research! I am riding in the STP in order to raise money for research.

I'm riding for all those that are no longer able.... Please join me in funding FSH Muscular Dystrophy research!! Together we can make a difference."

Read more about Kalynn, her training & Facioscapulohumeral Muscular Dystrophy at

Learn more about Friends of FSH Research - Visit our website www.fshfriends.org

Sunday, July 5, 2009

Boston Biomedical Research Institute - Center for FSHD Research

More positive developments in the field of Facioscapulohumeral Muscular Dystrophy research - Read the news about the newest Wellstone Center for Muscular Dystrophy - this center's focus is FSHD!!

Successful beginning for Wellstone Muscular Dystrophy Center at Boston Biomedical Research Institute
  • Author: Health Informer
  • Filed under: Health News
  • Date: Jul 5,2009
Last week, physicians, scientists, patients and members of the biotech industry from around the world gathered for the first major meeting of a unique research center on muscular dystrophy — the Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center.

Established last year and based at Boston Biomedical Research Institute (BBRI) in Watertown, MA, it is the only Wellstone Center and the only center in the world to focus solely on finding treatments and cures for the second most common adult form of MD known as facioscapulohumeral (FSH) muscular dystrophy. It is also the only Wellstone Center (there are five others in the US) in New England.

The purpose of the two-day retreat (June 16-18) was for world experts on this debilitating disease to present their current research findings, discuss and plan collaborative projects and fine-tune future research.

“We accomplished a great deal during this first gathering,” said Dr. Charles Emerson, director of Boston Biomedical Research Institute and the Wellstone Center. “This was a wonderful opportunity to bring together the best minds involved in FSH research. We heard from individuals involved with this disease from Australia to Brazil to Iowa to Children’s Hospital here in Boston. Their perspectives inform our direction moving forward.”

FSH, which affects at least one in 20,000 adults worldwide, is characterized by a weakening of the skeletal muscles, beginning in the face and slowly progressing to the shoulder and upper-arm muscles and then down to the abdominal and foot-extensor muscles. In the worst cases, all skeletal muscles are lost, hearing and vision are involved, and respiratory insufficiency can cause severe disability.

The six Wellstone Centers — inspired by and named for the late Senator Paul D. Wellstone and funded by the National Institutes of Health –represent a paradigm shift in research because of their intensely collaborative nature and especially because of their desire and mandate to include patient advocacy organizations as full partners in the research process.

Meeting participants came from BBRI, the FSH Society, Harvard, Acceleron and Novartis, Johns Hopkins Medical Institute, University of Maryland, University of Texas, Southwestern, University of Sao Paulo in Brazil, the University of Washington, and the FSH Global Research Foundation in Australia.

The Boston Biomedical Research Institute is a not-for-profit institution dedicated to the understanding, treatment, and prevention of specific human diseases such as muscular dystrophy, cancer, cardiovascular disease, and Alzheimer’s. For more information, visit us on the web at www.bbri.org.

Source: Boston Biomedical Research Institute

Saturday, July 4, 2009

4th of July in Kirkland Washington

Happy 4th of July!
Posted by Picasa

Broad Therapy For Muscular Dystrophy

Broad Therapy For Muscular Dystrophy
From ScienceDaily (June 26, 2009)

Broad Therapy For Muscular Dystrophy

ScienceDaily (June 26, 2009) — A group led by Dr. Paul T. Martin of The Ohio State University College of Medicine has demonstrated that the glycosyltransferase Galgt2 can lessen symptoms in multiple models of muscular dystrophy. Muscular dystrophy is a group of inherited muscular disorders that are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.

Recent studies have shown that a number of genes can prevent muscle damage, even though they do not fix the genetic defect that causes the disease. However, these surrogate gene therapies have had limited applicability across different forms of muscular dystrophy.

High expression of the protein Galgt2, which alters the expression and properties of other proteins expressed in skeletal muscle, lessens the symptoms of muscular dystrophy in models with decreased expression of either dystrophin or laminin. Xu et al examined the effects of Galgt2 overexpression in a mouse model of limb girdle muscular dystrophy 2D. Galgt2 overexpression resulted in lower levels of muscle damage, and galgt2 gene therapy protected muscle fibers from injury. Increasing Galgt2 expression may therefore have therapeutic benefits in a broad range of muscular dystrophies.

Dr. Martin and colleagues "have developed [a] gene therapy approach to overexpress the Galgt2 cDNA. …Future work will entail developing methods to allow systemic delivery of such gene therapy vectors using the human Galgt2 cDNA driven by muscle- or muscle/heart-specific promoters. … [They also plan to] identif[y] drugs that would increase [Galgt2] expression in muscle … to stimulate the therapeutic effects of Galgt2 over-expression."

Journal reference:

  1. Xu R, DeVries S, Camboni M, Martin PT. Overexpression of Galgt2 reduces dystrophic pathology in the skeletal muscles of alpha sarcoglycan-deficient mice. Am J Pathol, 2009, 174: 2645-2657
Adapted from materials provided by American Journal of Pathology, via EurekAlert!, a service of AAAS.

Thursday, July 2, 2009

FRG1, the Human Eye & Facioscapulohumeral Muscular Dystrophy

FSHD: What is the role of the FRG1 gene? Does FRG1 affect the health of muscle cells?

Muscular Dystrophy and Eye Defects (Science Candy post April 2009)

photo by Look Into My Eyes

Facioscapulohumeral muscular dystrophy (FSHD) is a degenerative disease causing the weakening of muscles in the face, shoulders, and upper arms. The disease usually manifests itself by the age of 20 and progresses slowly, with occasional stages of rapid deterioration. As an autosomal dominant disorder, FSHD is caused by a DNA deletion in chromosome 4. In addition to the weakening of muscles, many with the disorder experience vision problems due to abnormal blood vessel formation in the eyes.

About 95% of those affected show a defect in the expression of FRG1, a gene which aids in skeletal muscle development in frogs as well as humans. Researchers at the University of Illinois decided to determine if the FRG1 gene was also responsible for the defective angiogenesis in the eye of FSHD patients. They determined that the FRG1 gene product was highly expressed in the blood vessels of frogs and is important for proper vessel growth and organization. Thus the lack of this gene would account for abnormalities seen in the eye of humans, which was further shown by the study. Aberrant FRG1 expression therefore leads to defective skeletal muscle development and angiogenesis of the eye, both hallmarks of FSHD.

Source: Science Daily- Researchers Identify Gene Associated With Muscular Dystrophy-related Vision Problems

Thanks to this great post from Science Candy blog on April 28th, 2009