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Dystrophin in Medical News

BioMarin Announces Second Quarter 2009 Financial Results

...al by the first quarter of 2010. BMN-195 is an orally available small molecule which may upregulate utrophin, a potential replacement for the missing dystrophin protein in DMD patients. BMN-103 - alpha-glucosidase (GAA) for Pompe Disease: BMN-103 is a highly phosphorylated GAA enzyme, which the company...

Muscular dystrophy mystery solved; Mizzou scientist moves closer to MD solution

... disrupts the production of dystrophin. Absence of dystrophin starts a chain reaction that eventually leads to m...the replacement of these genes, Duan observed that dystrophin production was restarted in animals with muscular dystrophy. However, while dystrophin is vital for muscle development, the protein also ...

Investigational drug tested for preventing muscle fiber death in muscular dystrophy

...ical trials in patients with Duchenne MD. During the onset of muscular dystrophy, the loss of certain proteins critical to muscle function such as dystrophin can lead to contraction-related micro-tears in muscle fibers and an influx of calcium around muscle tissue. When this happens, cyclophilin D is instr...

Embryonic Stem Cells Create Healthy Muscle in Mice

...ypes of muscular dystrophy, which is characterized by a lack of the protein dystrophin in voluntary muscles, such as those in the arms and legs. dystrophin plays a key role in building and repairing muscle; without it, muscles dete...

New Target for Muscular Dystrophy Drug Therapy Discovered

...n foetal muscles soon after birth, following which dystrophin takes over as the primary muscle-associated protei...ophin expression, which in turn may substitute for dystrophin as a possible therapy for DMD. Experimen...tical to that of dystrophin, it may substitute for dystrophin in muscle cells, says researchers. Dr. Kh...

Scientists Explore ‘muscle’ in a New Drug to Assuage Muscular Dystrophy Symptos

...rophin. This protein is absent in 15% of patients suffering Duchenne Muscular Dystrophy. In mice, the drug assisted in superseding the mutation in the dystrophin gene, which obstructs the production of the protein. Expressing optimism over the potential of the new drug, lead researcher Dr H Lee Sweeney sai...

Cure Insight for DMD

...n the latest issue of the Journal of Neuropathology and Experimental Neurology. Dr. Tremblay's team is the first in the world to achieve this level of dystrophin expression in so many patients, and in such a high percentage of fibers. Duchenne muscular dystrophy is a hereditary disease affecting one boy in...

First Gene Therapy Human Trial For Muscular Dystrophy In Progress

...y can only slow the progressive muscle weakness of DMD. The gene for dystrophin is one of the largest genes in the human body, and miniaturizing it, while ...o acquired the intellectual property rights to Xiao's uniquely miniaturized dystrophin gene. In July 2004, the Muscular Dystrophy Association (MDA) awarded...

Trial Of DMD Gene Therapy Initiated At Ohio

...ic, technical and regulatory hurdles. The gene for dystrophin was identified in 1986 by MDA-supported researcher...phin therapy delivers the miniaturized replacement dystrophin gene with the help of Biological Nano Particles (B...or the participants will know which muscle got the dystrophin genes. After several weeks, an analysis of the inj...

Muscular Dystrophy May Be Cured By Gene Therapy

...rsity School of Medicine researchers // . The gene dystrophin was introduced into mice by the researchers as a p...ccessful: the introduced gene must produce healthy dystrophin protein in large quantities in order to repair the...apy studies did not look at whether the introduced dystrophin spread along the entire length of the muscle cell,...
Dystrophin in Medical Technology

PTC Therapeutics Completes Enrollment of Pivotal Trial in Muscular Dystrophy

...ope, Canada, Australia, and Israel. "This trial represents a critical milestone for the entire DMD/BMD community - 20 years after sequencing the dystrophin gene we have the first pivotal study for a potential disease-modifying therapy," said Brenda Wong, MD, associate professor of pediatrics and neurology...

PTC Therapeutics Announces Additional Results from Phase 2 Study of PTC124 in Duchenne Muscular Dystrophy

...is associated with qualitative increases in muscle dystrophin expression and with reductions in serum creatine k...nging clinical trial enrolled 38 boys with loss of dystrophin due to a nonsense mutation in the dystrophin gene. Participants also had substantially elevated...

PTC Therapeutics Announces Pharmacokinetic and Safety Results from Phase 2 Study of PTC124 in Duchenne Muscular Dystrophy

...y, patients received 28 days of PTC124 treatment at one of three dose levels. All clinical trial participants are boys with a nonsense mutation in the dystrophin gene, substantially elevated serum creatine kinase levels, and symptoms associated with DMD. The analysis presented today showed that PTC124 appeared ...

The Sturdier Sex?: Study by Pittsburgh Scientists Finds Female Stem Cells Work Better

... DMD lack dystrophin, a protein that gives muscle cells structure. Using an animal model of the disease, his laboratory is using stem cells to deliver dystrophin to muscles. In this study, Dr. Huard's team injected female and male muscle-derived stem cells into dystrophic mice and then measured the cells' abi...

Targeting Specific Mutations Reveals Promising New Approach to Treating Genetic Disorders; Preclinical Data Published in Nature

...dystrophin, an important muscle protein involved in maintaining the strength of muscle fibers, results in DMD. The data demonstrate that PTC124 allows dystrophin to be made in cells in which it was previously absent, to be delivered to the proper cellular location, and to induce restoration of muscle function. ...

PTC Therapeutics Announces Additional Positive Interim Phase 2 Results of PTC124 in Duchenne Muscular Dystrophy

...ith PTC124 was associated with increases in muscle dystrophin expression and reductions in serum creatinine kina...n the proportion of patients having an increase in dystrophin expression in muscle during 28 days of treatment w...24 showed evidence of a dose-dependent increase in dystrophin expression in all of the evaluable patients. Preli...
Dystrophin in Medical Dictionary

Muscular dystrophy

...4. LIMB-GIRDLE MUSCULAR DYSTROPHY . Age of onset: Teens or early adulthood ... Duchenne muscular dystrophy is caused by a mutation of the dystrophin gene at locus Xp21. ... United Parent Project Muscular Dystrophy : United Parent Projects ... Information about neuromuscular conditions, fac...
Dystrophin in Biological News

New therapy substitutes missing protein in those with muscular dystrophy

...isease, effectively repairing weakened muscle tissue. Researchers injected dystrophic mice with a protein called utrophin a very close relative of dystrophin that was modified with a cell-penetrating tag, called TAT. The study is the first to establish the efficacy and feasibility of the TAT-utrophin-ba...

Cell 'anchors' required to prevent muscular dystrophy

...ophy were missing the protein dystrophin, and that dystrophin is needed for a protein complex to form and protec...have found the outlines of a pathway through which dystrophin assembled this complex. The missing piece of the p... experiment for the new study asked if the protein dystrophin was found on the cell plasma membrane in the study...

The Burnham buzz

...trophy A mutation in the gene coding the protein dystrophin has long been known to be associated with muscular....D., Ph.D. and colleagues have discovered that the dystrophin mutation causes an increase in the amount of the h...renzo was able to return the muscle cells with the dystrophin mutation to normal histology and function. This ad...

Sarcospan, a little protein for a big problem

... In Duchenne muscular dystrophy (DMD), the mutated dystrophin protein fails to anchor correctly to its membrane ... the team was surprised to find sarcospan coaxed a dystrophin relative called utrophin to spread out on the musc...kaged into the safest viral vectors, unlike either dystrophin or utrophin, which are about 700 times larger and ...

New clinical trial results show how personalized medicine will alter treatment of genetic disorders

...uccess at restoring the expression of the specific protein--dystrophin, that is linked to healthy muscle tissue. This approach was shown to reactivate dystrophin protein production in small areas of muscle tissue at the injection site of muscular dystrophy patients. "Dozens of specific sequences will be requ...

The sturdier sex? -- Study by Pittsburgh scientists finds female stem cells work better

... DMD lack dystrophin, a protein that gives muscle cells structure. Using an animal model of the disease, his laboratory is using stem cells to deliver dystrophin to muscles. In this study, Dr. Huard’s team injected female and male muscle-derived stem cells into dystrophic mice and then measured the cells?a...

Jumping gene could provide non-viral alternative for gene therapy

...use RNA to make DNA, an error-prone process that must occur before integration, Dr. Kaminski says. Also, viruses can't carry larger genes, such as the dystrophin gene, which could help correct muscular dystrophy. On the other hand, unlike retroviruses, transposons have to be coated with lipid to slip into cell...

'Smart' genetic therapy helps the body to heal itself

...the gene that code for the disease), the processing of the genetic code for dystrophin ?a protein important for the muscle fibre membrane - can be manipulated i...evels. This study found no clinical adverse signs, and the restoration of dystrophin levels, even in the heart. "Of all the different strategies against DMD ...

Gene therapy for muscular dystrophy fixes frail muscle cells in animal model, Stanford study finds

...ne therapy to introduce a healthy copy of the gene dystrophin into mice with a condition that mimics muscular dystrophy. The dystrophin gene is mutated and as a result produces a defecti...ccessful: the introduced gene must produce healthy dystrophin protein in large quantities in order to repair the...

Research casts doubt on circulating stem cells

...eins. Here, the results were negative: "If at all, very few nuclei produced dystrophin ?in any case, far too few to achieve any improvement in the condition." The...cle proteins again," says Professor Wernig. "While we were able to activate dystrophin production in the muscle, the effect was nowhere near the level needed to c...
Dystrophin in Biological Technology

BioMarin Announces First Quarter 2009 Financial Results

...al by the first quarter of 2010. BMN-195 is an orally available small molecule which may upregulate utrophin, a potential replacement for the missing dystrophin protein in DMD patients. BMN-103 - alpha -glucosidase (GAA) for Pompe Disease: BioMarin expects to make a decision on the strategic direc...

AMT Accesses Technology for Treatment of Duchenne Muscular Dystrophy

...nne muscular dystrophy, caused by mutations in the dystrophin gene (essential for muscle function) is a severely...y be halted, and the production of the full-length dystrophin protein cannot take place. However, when the fault...e exon-skipping technique the mutated exons in the dystrophin mRNA that contain errors are "skipped" and as a re...

Researchers report major advance in gene therapy technique

... muscle-maintaining protein called dystrophin. Inserting genes that produce dystrophin into muscle cells could override the defect, scientists theorize, ensuring ...administer therapeutically important genes and proteins. When they injected dystrophin into mice that lacked it, the protein remained in muscle cells for at least...

Mirus granted European patent for gene therapy

...n as amyotrophic lateral sclerosis. Patients with the most common muscular dystrophies, Duchenne and Becker, suffer from a genetic defect in which dystrophin protein is either poor or inadequate in their muscle cells. It affects roughly one of every 3,500 male births, according to Mirus. The Mirus techni...

PCR Grade Deoxynucleotides

...ower panel). Each lot of PCR grade nucleotides is assayed for function in an RT-PCR amplification of a 1849 bp fragment of the human dystrophin gene. Varying amounts (5000, 1000, 500, 250, 100, 50, and 10 pg) of human skeletal muscle total RNA are incubated with 1 ml Titan RT...

prostar RT-PCR Systems for Robust High-Fidelity RNA Amplification

...amplification of 1.8- to 7.6-kb fragments of human dystrophin from reverse-transcribed total RNA (200...m low-abundance message (1.8- to 5.9-kb dystrophin fragments; Figure 3, Panel B, Lanes 2 t...as sufficient for amplifying the 1.8-kb dystrophin fragment from total RNA (low-abundance ...
Dystrophin in Biological Dictionary

Sarcolemma

...olemma of intact fibres, saponin (Fluka Chem. ... dystrophin protects the sarcolemma from stresses developed ...an is present at the sarcolemma in normal ... dystrophin is localized to the sarcolemma in association with a highly organized ... dystrophin complex at the sarcolemma , but is secondarily re...

Revertant

...cult to establish because of ... Revertant dystrophins retain functional domains and mediate plasmalemmal ... Revertant dystrophin, like normal dystrophin protein, shows a membrane ... ...

DGGE

...n long ... Denaturing Gradient Gel-Electrophoresis ( DGGE ) is one of the most sensitive ... Whole gene DGGE -based mutation scanning of the dystrophin gene in DMD/BMD patients. ... DGGE analysis of different microbial communities demonstrated the presence of up ... these populations, and there...

Carboxyl Terminus

...carboxyl terminus is highly mobile in its GDP-bound ... ... occurring dystrophin carboxyl terminus , Dp-71, restores the sarcolemmal ... Immunostaining for the carboxyl terminus of dystrophin was performed to ... A novel apoptosis pathway activated by the carbo...
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