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Karl2346

Location: London

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Karl's Research Blog

Dr Karl Bettelheim is a Trustee of Action Duchenne.

Latest Articles From Karl2346

Research Review No. 54. Novel ways of restoring muscles to mdx mice and humans.

A brief study showing a novel way of introducing the Dystrophin gene into mdx mice is followed by a review on the potential of the use of non-viral vectors for transferring the dystrophin gene.

Research Review No. 53. Heterogeneity in Duchenne patients: Implication for clinical trials.

An analysis of the characteristics of DMD cases is presented, which demonstrate great heterogeneity, which needs to be taken in consideration when planning clinical trials.

Research Review No. 52. Watch out for Gene Doping in the Olympic Games!

Speculations about Gene-doping to enhance athletic abilities have been discussed for many years. The value of such studies for the treatment of DMD is assessed.

Research Review No. 51. Urocortins, a treatment for Duchenne Muscular Dystrophy.

Urocortins improving dystrophic muscle structure and function, suggesting that these peptides may be considered for treatment of DMD.

Research Review No. 50. Exon-skipping for Duchenne Muscular Dystrophy.

Introduction of this slightly shortened dystrophin restores the dystrophin-associated complex suggesting preservation of function of the newly translated dystrophin, following exon-skipping.

Research Review No. 49. Gene Therapy for Duchenne Muscular Dystrophy.

The use of a genetically engineered virus to transport a minidystrophin gene was successfully trialled in a Phase 1 clinical trial in DMD boys.

Research Review No. 48. Counterfeit medications; The Elephant in the room!

The dangers of obtaining counterfeit medicines especially on the internet is discussed. The problems of sildenafil got without prescription are especially noted.

Research Review No. 47. Microdystophin in a virus, a canine study. A recent review.

The use of viruses to introduce a microdystrophin into a dog model of DMD is discussed.

Research Review No. 34 (corrected)

A major researcher on Resveratrol has been accused of Fraud and therefore all studies on this drug should be treated with caution.

Research Review No. 46. A healthy Heart, a problem.

Heart function tends to remain asymptomatic, while the progress of cardiac dysfunction proceeds in tandem with the general muscle wasting. When cardiac symptoms do occur it may be too late. Earlier testing and possible treatments are discussed.

Research Review No. 45. Halofuginone; A new update.

In the 18 months since I wrote Research Review No.13, a lot more work has been done on Halofuginone and a clinical trial on its use in DMD is being planned. It thus seemed relevant to revisit the scientific literature on this drug especially in relation to DMD.

Research Review No. 44 The Saga of Perindopril. A recent review.

Perindopril, an ACE inhibitor has been available for many years and there have been many studies on it especially in France, including its effect on Duchenne Muscular Dystrophy (DMD). This review examine some of these and other studies on this agent and its significance in treating DMD.

Research Review No. 43 Telomeres, a possibly new approach. A recent review.

The role of telomeres, which protect chromosomes during cell division is discussed. A novel way to treat DMD is considered as a result of these observations.

Research Review No. 42 Enalapril, a possibly new drug to reverse muscle necrosis.

Enalapril whose mode of action is as an inhibitor of the angiotensin converting enzyme (ACE) may be a useful drug to reduce dystophic muscle damage, based on their studies on mdx mice.

Research Review No. 41 Exon skipping and dystrophin restoration: a new study.

A clinical trial on the drug AVI-4658, which is specifically designed to skip Exon 51 is described with a comment on the study.

Research Review No. 40 More Mutations: a new study.

A study from Italy on the detailed mutations of 320 patients with DMD or BMD is presented and their analysis discussed.

Research Review No. 39 Exon-skipping: Some new studies.

This review discusses two recent papers, which discuss some pitfalls with Exon-skipping and how to overcome them.

Research Review No. 38 A good and a bad supplement.

A good and a bad supplement for the treatment of DMD are described and discussed.

Research Review No. 37 Steroids, a new study for treatrment of DMD.

The objective of the study was to compare the efficacy and safety of treating boys with DMD either with daily doses of prednisone or giving them the drug only at weekends.

Research Review No. 36 Antioxidants are good for DMD.

The key role of angiotensin-II in the development of fibrosis of muscle cells is discussed. The role of reactive oxygen species (ROS) is shown to be closely linked to angiotensin-II.

Research Review No. 35 Mutations Galore!

Two studies, one from Japan (2010)and one from Canada (2011) examined the diversity of mutations that can occur in in patients with DMD/BMD. This diversity has to be taken into consideration when planning clinical trials and treatments.

Research Review No. 34 And another new drug.

Resveratrol, a drug with antioxidant effects and effects on controlling positive cellular events in muscle cells is described. It may show promise in treating cases of DMD.

Research Review No. 33 Another new drug.

A report on a new drug, which goes under the name of AICAR and that induces utrophin up-regulation is discussed.

Research Review No. 32 Oxidative stress and Creatine.

A review of the importance of oxidative stress and the role of mitochondria is presented. This is followed by a discussion on the role of dietary creatine supplementation in reducing this stress.

Research Review No. 31 Further results on Melatonin treatment.

Two recent papers on the use of Melatonin in DMD are discussed. The Spanish authors of these papers demonstrate 'reduction in the inflammatory process and in muscle injury' in the 12-year old patients tested.

Research Review No. 30 New Idea on Utrophin Up-regulation A recent review.

A fascinating new idea about how to go directly to body's own control mechanisms to up-regulate utrophin come from China.

Research Review No. 29 Some new Treatment Ideas.

Two recent papers discussing treatment options are discussed.

Research Review No. 28 Some new Drugs.

Three potentially new drugs to maintain the strength of DMD cases are discussed: Suramin, Bisphosphanates and Bone Morphogenetic Protein antagonists. Finally a recent paper on personalized exon-skipping is examined.

Research Review No. 27 Recent Advances in Exon-Skipping.

Recent studies involving Exon-skippimg are discussed. The importance of the this means of treatment of DMD is stressed and the future of personalized medicine as a means of delivering this treatment to as many boys as possible is considered.

Research Review No. 26 Two new treatment ideas.

Two new treatment strategies are discussed, which may well aid treatment of DMD in future.

Research Review No. 25 Differences between Mice and men.

An improved mouse model that more closely resembles the human condition is described.

Research Review No. 24 Biglycan: a Potentially New Therapeutic Agent for Duchenne Muscular Dystrophy.

A protein, Biglycan, which is part of the outer matrix of the muscle cell, when injected into mdx mice, induces Utrophin up-regulation and stabilization of the muscle cells.

Research Review No. 23 Laminin-111: A Potential Therapeutic Agent for Duchenne Muscular Dystrophy. A recent review.

Four papers published in the last two years on laminin-111 are reviewed. The review leads to the conclusion in the fourth paper, that treatment with this protein could provide 'a simple and safe therapy to prevent loss of muscle function.'

Research Review No. 22 Sildenafil: An old drug, a new future.

This is a review of 4 articles from 2005 to last month, dealing with the possible use of Sildenofil (Viagra) to deal with heart problems associated with DMD. Sildenofil is shown to be a very useful drug for these purposes.

Research Review No. 21; DMD: Skipping into a happy Future. A recent review.

Five papers, linked to Exon-skipping, which appeared in September 2010, are discussed

Research Review No. 20 DMD: Past-Present-Future.

I discuss three recent papers, looking at the past, present and future of DMD research.

Research Review No. 19 Gene Repair.

Two papers discussing gene-repair as a means of treating DMD are reviewed. The first gives an up to date account of the problems of duplications, while the second deal with the direct invention at the nuclear level.

Research Review No. 17 Green Tea & DNA. A recent review.

This is a review of a paper, which describes many beneficial effects of giving mdx mice green tea extract and a second study on the use of DNA-based medications.

Research Review No. 16 ‘Fall Seven Times, Stand Up Eight’. A recent review.

This is a review of three recent papers and a commentary. Unfortunately the studies are all rather negative, but as In the japanese proverb, quoted in the commentary and wich I used as title states that after some set-backs there is always further hope.

Research Review No. 15 Use of small interfering RNAs is extended.

The use of small interfering RNAs in the successful treatment of Ebola virus infections may open the door to far greater interest in the therapeutic use of these agents, which should increase R&D on them greatly, to the benefit of the DMD community.

Recent Papers on topic related to DMD.

Current papers related to DMD.

Decipering a second genetic code.

A new genetic code, which controls how pre-messenger RNA is spliced to produce various proteins derived from the samegene, is discussed.

Research Review No. 13; Halofuginone, should we look at it more closely?

Halofuginone has been given to human patients with a variety of conditions characterized by excessive fibrosis. Current studies suggest that halofuginone plays a direct role in controlling myofiber size at early stages of muscle regeneration, thereby enhancing it.

Research Review No. 12 How many mutations are there? A recent study.

This article discusses the detailed analysis of 1,111 cases of DMD/BMD across the U.S.A. and details the variety of the types of mutation that have been observed.

Research Review No. 10 Imatinib, a new drug on the Muscular Dystrophy block?

This is a review of a new drug 'Imatinib', which has anti-inflammatory and antifibrotic effects, and may be useful in the treatment of muscular dystrophies.

Research Review No. 11, The future is coming a little closer!

This reports on some clinical trials currently under way.

Research Review No. 9; Gene therapy in Muscular Dystrophy.

This is a summary of a recent review, which discusses the various gene-based therapies, which are being considered to treat DMD.

Recent Publications dealing with Duchenne Muscular Dystrophy. 8. The Role of Corticosteroids in Muscular Dystrophy.

This is a review of some recent papers dealing with the use of corticosteroids in the treatment of DMD.

Recent Publications dealing with Duchenne Muscular Dystrophy. 7. Late Starters.

This is a review of a paper, which makes the novel suggestion for those cases of DMD, that have their mutation at the beginning of the gene, that transcription may commence at Exon 6 and thus significantly alleviate the condition.

Ten Days or Ten Years!?! Some personal thoughts on the 5th International Duchenne Conference - A Change is gonna Come.

This is a review of the 5th International Duchenne Conference - A Change is gonna Come.

Recent Papers related to DMD.

This list has been updated on 8.12.2009. Some of the earlier papers have been deleted from the list.

Recent Publications dealing with Duchenne Muscular Dystrophy. 6. Crossing the Valley of Despair.

This review deals with the problems of getting new drugs to market and to the patients needing them.

Recent Publications dealing with Duchenne Muscular Dystrophy. 5. Watch the Olympic Records Tumble.

This review asks the question whethe the illegal use of genetic techniques in aspiring Olympic athletes will precede the use of such measures to alleviate genetic conditions such as MDD.

Recent Publications dealing with Duchenne Muscular Dystrophy. 4. Delay or alleviation of Symptoms.

This deals with some of the medications used to delay onset of the symptoms of DMD.

Recent Publications dealing with Duchenne Muscular Dystrophy. 3. Viral based Gene Therapy.

Review of use of viruses to deliver gene therapy for DMD.

Recent Publications dealing with Duchenne Muscular Dystrophy. 2. Stem Cell Research.

Short Account on Stem Cell Research.

Recent Publications dealing with Duchenne Muscular Dystrophy. 1. Exon-skipping.

Introduction
Currently there are three major groups of treatment for Duchenne Muscular Dystrophy (DMD) either already available or being developed...