Thursday, December 31, 2009

Tarantula Venom Therapy?

Tarantula venom could help treat muscular dystrophy

Thursday, December 31, 2009 13:37 IST
Email Email

Print Print

Share Share

WASHINGTON: Tarantulas—the big, hairy and to many people very scary spiders—could actually help people suffering from muscular dystrophy, say scientists at University of Buffalo.

Biophysicists have found a protein in tarantula venom that shows promise as a potential therapy for MD, which is a group of inherited muscle diseases.

Fredrick Sachs, a professor of physiology and biophysics at the University at Buffalo, and his colleagues discovered the peptide, called GsMTx4.

The researchers extensively tested the effect of GsMTx4 on mice with muscular dystrophy and found the drug increased muscle strength and caused no deaths or toxicity, reports Fox News.

Sachs said the peptide also has potential therapy for several other conditions, such as neuropathic pain and atrial fibrillation.

Hoping to advance the drug to clinical trials, the researchers have formed a biotech company in Buffalo, NY called Rose Pharmaceuticals.

Currently, there's no cure for muscular dystrophy, but medications and therapy can help slow the course of the disease.

Tuesday, December 29, 2009

Calling All Researchers - FSHD Global Research Foundation Ltd

Calling All Researchers - FSHD Global Research Foundation Ltd

The FSHD Global Research Foundation has established a track-record for funding cutting edge research into Fascioscapulo Humeral Dystrophy in research institutions across the world. We currently have seven diverse projects receiving funding in the United States, Europe and Australia. Please click here for more information.

Thursday, December 24, 2009

Hearing & FSHD

2004, Vol. 2, No. 4, Pages 247-254 , DOI 10.1080/16513860410005334

Audiological investigations in patients with late onset facioscapulohumeral muscular dystrophy (FSHD)

Fei Zhao1, Dafydd Stephens2, Mark Rogers3 and Peter Harper3
1School of Health Science University of Wales Swansea UK
2Welsh Hearing Institute University Hospital of Wales Cardiff UK
3Institute of Medical Genetics University of Wales College of Medicine Cardiff UK

We have systematically tested the peripheral auditory system in 21 late-onset FSHD cases. The pure tone thresholds did not differ significantly at low and mid frequencies in either better ear or worse ear between FSHD subjects and controls. The patients with FSHD had significantly better hearing thresholds at 4 and 6kHz than the normative data in the better and the worse ears. Transient evoked otoacoustic emissions (TEOAEs) were recorded as an objective and sensitive method for evaluating cochlear function. A significantly lower occurrence of TEOAEs was found in the FSHD patients with hearing thresholds better than 20dB HL. Furthermore, this study provides evidence for the neuromuscular abnormalities of FSHD through its findings on the relaxation time of the acoustic stapedial reflex. A significantly longer relaxation time was found in patients with FSHD. No significant correlations were found between age and severity, or between duration and severity. Moreover, there were no significant correlations between hearing level and clinical severity in patients with FSHD.

Sunday, December 20, 2009

living with Muscular Dystrophy, FSHD - AOL Video

Kristin Duquette talks about living with Muscular Dystrophy, FSHD - AOL Video

This is a very good explanation about FSHD and life coping with FSHD's impact.
Kristin Duquette is a Challenged Athlete training for the ParaOlympics.

Another excerpt from someone's story about FSHD:
It’s 1976 and flash bulbs pop as eager relatives urge seven-year-old Lilleen Walters to smile for the camera. Feeling fancy in her flower girl dress, she fights to curve her lips into a smile to please the wedding guests, but her muscles won’t obey. Days and months go by, and Lilleen still can’t smile. Doctors believe she is depressed, and recommend counseling and antidepressants. They don’t help. Years later, when she is 15, Lilleen is diagnosed with facioscapulohumeral muscular dystrophy (FSHD), a genetic, hereditary muscle disease that causes progressive muscle weakness.

Saturday, December 19, 2009

Friends of FSH Research Newsletter - Auction

Read the latest news from Friends of FSH Research - News & Auction Information

Join us for a Caribbean Night of Fun & Benefit Facioscapulohumeral Muscular Dystrophy Research!!

Get tickets Now!
Contact Us - or call 425-827-8954

Netherlands - FSH Research - Epigenetic Causes

Project: Epigenetic causes of facioscapulohumeral muscular dystrophy

* Title (NL) Epigenetische oorzaken van facioscapulohumerale spierdystrofie
* Period 09 / 2004 - 09 / 2008
* Status Current S.M. van der Maarel Project Leader

Facioscapulohumeral muscular dystrophy (FSHD) is caused by an epigenetic disease mechanism involving contraction of the D4Z4 repeat array on chromosome 4qter. This contraction likely induces a local chromatin alteration, possibly resulting in transcriptional deregulation of 4qter genes as (1) some genes on 4qter appear to be transcriptionally upregulated in FSHD, (2) D4Z4 is hypomethylated in FSHD chromosomes, and (3) patients clinically indistinguishable from FSHD but without contraction of D4Z4 are also hypomethylated at D4Z4. Thus, in non-4q-linked FSHD, the pathogenetic pathway also acts through an epigenetic mechanism on chromosome 4. However, the structural and functional consequences of D4Z4 hypomethylation in 4q-linked and non-4q-linked FSHD are unknown. Interestingly, the immunodeficiency, centromere instability and facial anomalies (ICF) syndrome also shows hypomethylation of D4Z4, but does not present with muscular dystrophy. To understand FSHD and ICF etiology, and to better understand the functional and structural role of D4Z4 in FSHD and ICF, we propose to study the chromatin structure of D4Z4 in muscle, myoblast and fibroblast cell lines of 4q-linked FSHD, non-4q-linked FSHD and ICF syndrome patients. This will include precise methylation analysis of D4Z4 by allele-specific bisulfite conversion to identify consistent differences in D4Z4 methylation between FSHD and ICF that may reflect structural domains within D4Z4 through differential methylation-dependent binding of DNA-associated proteins. We will further study the chromatin structure of 4qter by allele-specific DNAseI chromatin-sensitivity, chromatin immunoprecipitation and RNA interference assays. In parallel, we will perform quantitative expression analyses of 4qter genes to study the functional consequences of D4Z4 chromatin changes. Finally, we will establish a cellular model system to study the fundamental involvement of D4Z4 in epigenetic structuring of subtelomeric chromosome domains. We expect that this study will provide a fundamental insight intp the (differential) epigenetic mechanism of FSHD and ICF.

Sunday, December 6, 2009

FSH-MD Support Group UK

Visit the newly re-constructed website for the FSH MuscularDystrophy Support Group UK

This is a great resource for those, worldwide, diagnosed with FSHD, as stated in this message by one of the group's founders.

…."I wanted to find out more about this condition and help Lisa to meet other people with FSH-MD, I felt the best way to go about this was to start a support group". Lorraine

Reaching out & talking with other, telling people about FSH will increase the public's awareness of FSHD. Here is a resource for those with FSH to get support & learn from others that live with FSHD.

Clinical Genetics - 2009 - FSHD Common Form

Clin Genet. 2009 Jun;75(6):550-5. Epub 2009 Mar 23.

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.

Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, Galluzzi G, Trevisan CP.

Department of Biology, University of Padua, Padua, Italy.

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease associated with a partial deletion on chromosome 4q35. Few relevant investigations have been reported on its epidemiology and were essentially based on clinical diagnosis, having been performed before recognition of the molecular mutation. We report an epidemiological survey on FSHD patients, in which the diagnosis was obtained by combined clinical and molecular evaluation. The survey concerned the north-east Italian province of Padova, an area of 871,190 inhabitants (1 January 2004). We identified 40 patients affected by FSHD based on clinical diagnosis. In 33 of them, the EcoRI fragment size in the 4q35 region ranged from 14 to 35 kb. Four other patients belonging to the same family harbored a 38-kb fragment. In these four cases, the relationship between the borderline deletion with the mild FSHD phenotype was corroborated by additional haplotype reconstruction and segregation analysis. Interestingly, the same mild facial-sparing clinical pattern was apparent only in one other patient with an EcoRI fragment of 32 kb, suggesting that this unusual FSHD phenotype may be due to very small 4q35 deletions. On the whole, estimating a prevalence rate of 44 x 10(-6), our survey confirmed FSHD as one of the most frequent neuromuscular disorders in Western populations.

Tuesday, December 1, 2009

Procurement in Seattle

Walking the streets of downtown Seattle -
Out procuring for our 6th annual auction today - speaking to hotel managers, restaurateurs and shop keepers. What a variety of experiences.

Starting off at the Seattle Westin, where I could not speak with the person in charge of donations, etc. but I spoke with her assistant who was interested and sincerely cared about our cause. I walked on to the Mayflower Hotel and the Andaluca Restaurants - in both places I was greeted warmly and treated with sincere interest. At the Rocky Mountain Candy Shop near Pike Place market, the manager simply said "yes" and completed the donation form. He was most willing to lend his support to our cause!

Procurement is by far the hardest part of our conducting a benefit auction. I am not much of a public speaker nor do I like asking for help. But, in order to be successful and raise the money necessary for FSH research it is essential to get out there and ASK! I don't expect everyone to donate, or to find our cause the one they wish to support, but I am surprised (and disappointed) when I am treated without any respect or where there is no regard for our cause. (funding FSH research)
Thankfully, I was only in a few businesses where they rolled their eyes, or made it clear that they wish I would leave. It would be inappropriate for me to name the places where I was treated poorly, but I know those are places where I will never do business.

One of my final stops was at the Sazerac Restaurant. I ended there on a good note. The manager there took the time to talk with me and truly listen to my story about Brian, our family & our work to fund FSH research. Without hesitation he said "yes," he would be pleased to help and support FSH research. Now there's a place that I will visit again, as a customer!