Another paper has been published and revealed another potential treatment for myotonic dystrophy, Phenylbutazone PBZ.. Interestingly this study was also done in Japan………… now a hotbed of repositioning drugs for treatment of myotonic dystrophy. some info from the study
“Using the drug repositioning strategy, we found that PBZ markedly elevated MBNL1 expression in myogenic cells(Fig. 1 and Supplementary Fig. S1) as well as in skeletal muscles in HSALR mice model (Fig. 2 and Supplementary Fig. S2). PBZ mitigated muscle pathology (Fig. 2d,e) and improved the running wheel activity and grip strength in HSALR mice (Fig. 2c and Supplementary Fig. S2d).”
This summary above showed that in mice this drug helped mice with myotonic dystrophy run on the wheel better and had better grip strength. More info below
PBZ is an NSAID with anti-inflammatory, antipyretic, and analgesic activities. PBZ was approved in humans for rheumatoid arthritis and gout in 1949. Although incidental adverse effects of fatal liver disease and aplastic anemia markedly lowered the use of PBZ, PBZ is still used as an alternative drug for ankylosing spondylitis32,33.
Interestingly, another NSAID, ketoprofen has been reported to suppress CUG-induced lethality in Drosophila34, and we also found that 50 μ M ketoprofen upregulated the expression of Mbnl1 mRNA 1.2-fold in C2C12 cells, which was lower than the 1.3-fold increase of Mbnl1 mRNA by 50 μ M PBZ (Supplementary Fig. S6). Ketoprofen
and some other NSAIDs may have beneficial effects on a mouse model of DM1, as well as on DM1 patients.
Editors Note: This drug (PBZ) approval was removed for humans in 2003 in the USA and Canada. It is available for use in animals only. The drug Ketoprofen was not studied in depth but is an approved NSAZID drug in the USA. We have choosen the image of Ketoprofen as this is an approved drug in the USA.
Most of the emphasis on myotonic dystrophy has been on DM1 or Myotonic Dystrophy Type 1 Now a new generous gift will push the reseach front on DM2! A great day!
Gift Will Advance Research on Myotonic Dystrophy Type 2
September 09, 2014
Albert (Alfy) and Lilyan (Lil) Nathan
A $1.25 million gift from Lilyan (Lil) and Albert (Alfy) Nathan of Florida and Michael and Sherry Goldberg of Chicago will create a new center dedicated to research on myotonic dystrophy type 2 (DM2) at the University of Rochester School of Medicine and Dentistry. The gift will be used to support a new research program that will be led by UR Medicine neurologist Chad Heatwole, M.D.
A highly promising Compound has formed the basis for a new pharmaceutical company. This company is Called Atricode and is based on compounds that have been researched at University of Southern California to treat and cure Myotonic Dystrophy. Sita Reddy’s Lab has been instrumental in moving these potential treatments (MDI16) for Myotonic Dystrophy. The lab and company has recently been awarded a $90,000 grant through a competitive process. More about the grant:
Atricode is developing treatments for rare diseases. The lead indication, Myotonic Dystrophy Type 1 (DM1,) is a devastating genetic multisystem disorder with no available treatment or cure. This team identified highly potent and selective small molecule leads that rescue DM1 pathology in patient myoblasts and in DM1 mouse models. The team joined forces with experienced entrepreneurs to form a start-up company that moves the drug candidates towards the clinic. The drug candidate could be the first therapy to treat this devastating disorder and the Ideas Empowered funds are critical for the selection of the lead candidate for clinical development and to support fundraising efforts.
IDMC-9 will be the most exciting conference for scientific researchers and the place to be for those associated with myotonic Dystrophy. It looks as though the conference will be at the Kursaal Centre. It is scheduled for October 15-20 2013
Here are a few of the labs working on Myotonic Dystrophy
Dr. Puymirat Quebec, Canada The major aim of the Puymirat lab is to develop a genetic therapy for Steinert dystrophy. During the last few years, the Puymirat lab developed a genetic approach capable of restoring normal functions of the affected human muscle cell. Indeed, Steinert dystrophy is caused by an abnormal accumulation of RNA in the nucleus of muscle cells. The therapy developed by the Puymirat lab is based on the specific destruction of RNA using antisense RNA and ribozymes. The research group showed in vitro that specific destruction of mRNA restored normal functions of the cell. In vivo, intramuscular injection of vectors producing antisense RNA or ribozymes reduced the levels of mutated RNA by 80%. The team is currently studying the effectiveness of this therapy in mice carrying the pathology.