ScienceDaily: Muscular Dystrophy News

Laminopathies: Key components in the disease mechanism identified

Tue, 07 May 2013 06:08:08 EDT

Laminopathies are hereditary diseases that affect mainly the muscle tissue. These diseases include for example Emery-Dreifuss Muscular dystrophy, dilated cardiomyopathy, limb-girdle muscular dystrophy and Hutchison-Gilford progeria syndrome.

Firefly protein lights up degenerating muscles, aiding muscular-dystrophy research

Wed, 24 Apr 2013 12:58:58 EDT

Scientists have created a mouse model of muscular dystrophy in which degenerating muscle tissue gives off visible light.

Why a hereditary anemia is caused by genetic mutation in mechanically sensitive ion channel

Fri, 08 Mar 2013 18:38:38 EST

A genetic mutation that alters the kinetics of an ion channel in red blood cells has been identified as the cause behind a hereditary anemia, according to a new article.

Genetically corrected stem cells spark muscle regeneration

Tue, 05 Mar 2013 13:11:11 EST

Researchers have combined genetic repair with cellular reprogramming to generate stem cells capable of muscle regeneration in a mouse model for Duchenne muscular dystrophy.

Cell discovery could hold key to causes of inherited diseases

Tue, 26 Feb 2013 11:38:38 EST

Fresh insights into the protective seal that surrounds the DNA of our cells could help develop treatments for inherited muscle, brain, bone and skin disorders. Researchers have discovered that the proteins within this coating -- known as the nuclear envelope -- vary greatly between cells in different organs of the body.

Experimental gene therapy treatment for Duchenne muscular dystrophy offers hope for youngster

Thu, 07 Feb 2013 17:21:21 EST

Jacob Rutt is a bright 11-year-old who likes to draw detailed maps in his spare time. But the budding geographer has a hard time with physical skills most children take for granted -- running and climbing trees are beyond him, and even walking can be difficult. He was diagnosed with a form of muscular dystrophy known as Duchenne when he was two years old.

Gene therapy: Editing out genetic damage

Sun, 03 Feb 2013 14:54:54 EST

New design guidelines from researchers in Singapore simplify the development of targeted therapies for muscular dystrophy and other diseases.

Scientists discover 'needle in a haystack' for muscular dystrophy patients

Tue, 22 Jan 2013 16:21:21 EST

Scientists have identified a sequence in the dystrophin gene that is essential for helping muscle tissues function, a breakthrough discovery that could lead to treatments for the deadly hereditary disease. The researchers “found the proverbial needle in a haystack,” according to an expert.

Quantum leap in gene therapy of Duchenne muscular dystrophy

Tue, 15 Jan 2013 11:17:17 EST

For years, scientists have been working to find the key to restoring dystrophin, but they have faced many challenges. After careful evaluation of 22 dogs, researchers found that the new version of the micro-dystrophin gene not only reduced inflammation and fibrosis, it also effectively improved muscle strength.

Tamoxifen ameliorates symptoms of Duchenne muscular dystrophy, study suggests

Tue, 15 Jan 2013 08:58:58 EST

A new study has found that tamoxifen, a well-known breast cancer drug, can counteract some pathological features in a mouse model of Duchenne muscular dystrophy (DMD). At present, no treatment is known to produce long-term improvement of the symptoms in boys with DMD, a debilitating muscular disorder that is characterized by progressive muscle wasting, respiratory and cardiac impairments, paralysis, and premature death.

Stem-cell approach shows promise for Duchenne muscular dystrophy

Mon, 14 Jan 2013 13:33:33 EST

Researchers have shown that transplanting stem cells derived from normal mouse blood vessels into the hearts of mice that model the pathology associated with Duchenne muscular dystrophy (DMD) prevents the decrease in heart function associated with DMD.

Drug that may help fight Duchenne muscular dystrophy discovered

Wed, 12 Dec 2012 14:18:18 EST

Drugs are currently being tested that show promise in treating patients with Duchenne muscular dystrophy (DMD), an inherited disease that affects about one in 3,600 boys and results in muscle degeneration and, eventually, death.

Another muscular dystrophy mystery solved; Scientists inch closer to a therapy for patients

Fri, 07 Dec 2012 16:16:16 EST

In a new study, researchers have discovered the missing pieces to a muscular dystrophy puzzle that could ultimately lead to a therapy and, potentially, a longer lifespan for patients suffering from the disease.

Common drug reverses common effect of becker muscular dystrophy

Wed, 28 Nov 2012 14:26:26 EST

Researchers have found in an initial clinical trial that a drug typically prescribed for erectile dysfunction or pulmonary hypertension restores blood flow to oxygen-starved muscles in patients with a type of muscular dystrophy that affects males, typically starting in childhood or adolescence.

Protein injection points to muscular dystrophy treatment

Tue, 27 Nov 2012 09:42:42 EST

Scientists have discovered that injecting a novel human protein into muscle affected by Duchenne muscular dystrophy significantly increases its size and strength, findings that could lead to a therapy akin to the use of insulin by diabetics.

From degeneration to regeneration: Advances in skeletal muscle engineering

Sun, 25 Nov 2012 19:28:28 EST

Medical researchers have developed a new therapeutic technique to repair and rebuild muscle for sufferers of degenerative muscle disorders. The therapy brings together two existing techniques for muscle repair – cell transplantation and tissue engineering – specifically, mesoangioblast stem cells delivered via a hydrogel cell-carrier matrix.

Preclinical muscular dystrophy data shows promise

Thu, 08 Nov 2012 10:44:44 EST

Researchers have found that an experimental compound may help stem the debilitating effects of muscular dystrophy by restoring normal blood flow to muscles affected by the genetic disorder.

New vitamin-based treatment that could reduce muscle degeneration in muscular dystrophy

Tue, 23 Oct 2012 17:21:21 EDT

Boosting the activity of a vitamin-sensitive cell adhesion pathway has the potential to counteract the muscle degeneration and reduced mobility caused by muscular dystrophies, according to a research team.

Novel discovery links anti-cancer drugs to muscle repair

Tue, 16 Oct 2012 12:59:59 EDT

Research shows that the IAP-targeting drugs that promote the death of cancer cells also induce the growth and repair of muscle.

Key part of old mystery in generating muscle mass solved

Thu, 27 Sep 2012 14:13:13 EDT

Working with mice, researchers have solved a key part of a muscle regeneration mystery plaguing scientists for years, adding strong support to the theory that muscle mass can be built without a complete, fully functional supply of muscle stem cells.

Important breakthrough in fight against muscular dystrophies

Wed, 12 Sep 2012 12:55:55 EDT

Recent findings by an international collaboration hold new implications for the pathogenesis of myotonic dystrophy.

Potential treatment for cognitive effects of stress-related disorders, including PTSD

Thu, 30 Aug 2012 13:51:51 EDT

Researchers have identified a potential medical treatment for the cognitive effects of stress-related disorders, including post-traumatic stress disorder (PTSD). The study, conducted in a PTSD mouse model, shows that an experimental drug called S107, one of a new class of small-molecule compounds called Rycals, prevented learning and memory deficits associated with stress-related disorders.

Growing strong muscles without working out? 'Hulk' protein, Grb10, controls muscle growth

Thu, 30 Aug 2012 13:04:04 EDT

Scientists may soon help people grow strong muscles without needing to hit the weight room. Researchers discovered that by blocking the function of the protein Grb10 in mice in the womb, they developed as more muscular than their normal counterparts. This presents important implications for a range of conditions that are worsened by, or cause muscle wasting, such as injury, muscular dystrophy, and Type 2 diabetes.

New model of muscular dystrophy provides insight into disease development

Mon, 27 Aug 2012 12:24:24 EDT

Researchers report the development of a mouse model of Fukuyama's muscular dystrophy that copies the pathology seen in the human form of the disease.

Why muscles go wrong in Duchenne muscular dystrophy

Wed, 22 Aug 2012 12:47:47 EDT

Skeletal muscle degeneration in Duchenne muscular dystrophy (DMD) is worsened by stiffening of the microtubule cytoskeleton that provide structure inside muscle cells.

Underlying causes of impaired brain function in muscular dystrophy revealed

Wed, 08 Aug 2012 12:18:18 EDT

The molecular missteps that disrupt brain function in the most common form of adult-onset muscular dystrophy have been revealed in a new study. Myotonic dystrophy is marked by progressive muscle wasting and weakness, as well as sleepiness, memory problems, and mental retardation. A new mouse model reported reproduces key cognitive and behavioral symptoms of this disease and could be used to develop drug treatments, which are currently lacking.

Possible muscle disease therapeutic target found

Mon, 06 Aug 2012 15:12:12 EDT

The study of muscular system protein myostatin has been of great interest to researchers as a potential therapeutic target for people with muscular disorders. Although much is known about how myostatin affects muscle growth, there has been disagreement about what types of muscle cells it acts upon. New research narrows down the field to one likely type of cell.

Promising step forward toward muscular dystrophy treatment: Symptoms reversed in mice

Wed, 01 Aug 2012 13:24:24 EDT

Scientists have reversed symptoms of myotonic muscular dystrophy in mice by eliminating a buildup of toxic RNA in muscle cells. After experimental antisense compounds were administered to mice twice a week for four weeks, symptoms of the disease were reduced for up to one year -- a significant portion of a mouse's lifespan. Investigators say that the work is an encouraging step forward against one of the most common forms of muscular dystrophy.

New gene mutation associated with congenital myopathy

Wed, 25 Jul 2012 14:25:25 EDT

Researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene.

Rapamycin effective in mouse model of inherited heart disease and muscular dystrophies

Wed, 25 Jul 2012 14:25:25 EDT

Rapamycin, an FDA-approved immunosuppressant drug under study in aging research labs, improved function and extended survival in mice suffering from a genetic mutation which leads to dilated cardiomyopathy (DCM) and rare muscular dystrophies in humans. There are currently no effective treatment for the diseases, which include Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy. The familial form of DCM often leads to sudden heart failure and death when those affected reach their 40s and 50s.

Protein found in spider venom could treat muscular dystrophy

Mon, 16 Jul 2012 14:26:26 EDT

When a stockbroker from the Buffalo suburbs discovered that his grandson had Duchenne muscular dystrophy, he turned to medical researchers for help in developing a treatment. He found a promising new therapy involving spider venom. The therapy is not a cure. But if it works in humans, it could extend lives for years -- maybe even decades.

Strong communication between brain and muscle requires both having the protein LRP4

Wed, 11 Jul 2012 12:30:30 EDT

Communication between the brain and muscle must be strong for us to eat, breathe or walk. Now scientists have found that a protein known to be on the surface of muscle cells must be present in both tissues to ensure the conversation is robust.

New gene transfer strategy shows promise for limb girdle and other muscular dystrophies

Mon, 09 Jul 2012 09:32:32 EDT

The challenge of treating patients with genetic disorders in which a single mutated gene is simply too large to be replaced using traditional gene therapy techniques may soon be a thing of the past. A new study describes a new gene therapy approach capable of delivering full-length versions of large genes and improving skeletal muscle function. The strategy may hold new hope for treating dysferlinopathies and other muscular dystrophies.

New compound holds promise for treating Duchenne MD, other inherited diseases

Wed, 27 Jun 2012 15:42:42 EDT

Scientistshave identified a new compound that could treat certain types of genetic disorders in muscles. It is a first, big step in what they hope will lead to human clinical trials for Duchenne Muscular Dystrophy (DMD).

Successful transplant of patient-derived stem cells into mice with muscular dystrophy

Wed, 27 Jun 2012 14:25:25 EDT

Stem cells from patients with a rare form of muscular dystrophy have been successfully transplanted into mice affected by the same form of dystrophy, according to a new study.

Muscular dystrophy: MG53 protein is shown to repair cell and tissue damage

Wed, 20 Jun 2012 15:38:38 EDT

Throughout the lifecycle, injury to the body’s cells occurs naturally, as well as through trauma. Cells have the ability to repair and regenerate themselves, but a defect in the repair process can lead to cardiovascular, neurological, muscular or pulmonary diseases. Recent discoveries of key genes that control cell repair have advanced the often painstaking search for ways to enhance the repair process. A new study reports that the protein MG53, previously shown to be the key initiator in the cell membrane repair process, has the potential to be used directly as a therapeutic approach to treating traumatic tissue damage.

Scientists discover clues to muscle stem cell functions

Tue, 15 May 2012 07:03:03 EDT

Scientists have identified how skeletal muscle stem cells respond to muscle injury and may be stimulated to improve muscle repair in Duchenne Muscular Dystrophy, a severe inherited disease of muscle that causes weakness, disability and, ultimately, heart and respiratory failure.

Genetic mutation causing rare form of spinal muscular atrophy identified

Thu, 10 May 2012 11:35:35 EDT

Scientists have confirmed that mutations of a gene are responsible for some cases of a rare, inherited disease that causes progressive muscle degeneration and weakness: spinal muscular atrophy with lower extremity predominance, also known as SMA-LED.

New muscular dystrophy treatment approach developed using human stem cells

Fri, 04 May 2012 11:05:05 EDT

Researchers have effectively treated muscular dystrophy in mice using human stem cells derived from a new process that -- for the first time -- makes the production of human muscle cells from stem cells efficient and effective.

Scientists uncover exciting lead into premature aging and heart disease

Mon, 30 Apr 2012 10:10:10 EDT

Scientists have discovered that they can dramatically increase the life span of mice with progeria (premature aging disease) and heart disease (caused by Emery-Dreifuss muscular dystrophy) by reducing levels of a protein called SUN1. Their findings provide an exciting lead into developing new methods to treat premature aging and heart disease.

Treatment hope for muscular dystrophy

Wed, 04 Apr 2012 13:37:37 EDT

Medical researchers have found that increasing a specific protein in muscles could help treat Duchenne muscular dystrophy, a severe and progressive muscle wasting disease that affects young boys.

Next-generation DNA sequencing to improve diagnosis for muscular dystrophy

Mon, 05 Mar 2012 13:23:23 EST

Scientists have used a revolutionary new DNA-reading technology for a research project that could lead to correct genetic diagnosis for muscle-wasting diseases. The technique could be used to offer people with muscular dystrophy, or a related neuromuscular condition, a more accurate prognosis, which would enable them to make more informed choices on life decisions, including family planning.

Scientists create potent molecules aimed at treating muscular dystrophy

Wed, 22 Feb 2012 20:43:43 EST

While RNA is an appealing drug target, small molecules that can actually affect its function have rarely been found. But now scientists have for the first time designed a series of small molecules that act against an RNA defect directly responsible for the most common form of adult-onset muscular dystrophy.

When nerve meets muscle, biglycan seals the deal

Tue, 14 Feb 2012 21:55:55 EST

In the absence of the protein biglycan, synapses at neuromuscular junctions in mice began to break up about five weeks after birth, according to a new study. Reintroducing byglycan helped fix the loss of synaptic stability in cell culture. The research may be relevant to efforts to treat motor neuron diseases, such as amyotrophic lateral sclerosis (ALS, Lou Gherig's Disease) and spinal muscular atrophy.

Need muscle for a tough spot? Turn to fat stem cells

Mon, 30 Jan 2012 09:43:43 EST

Stem cells derived from fat have a surprising trick up their sleeves: Encouraged to develop on a stiff surface, they undergo a remarkable transformation toward becoming mature muscle cells. The new cells remain intact and fused together even when transferred to an extremely stiff, bone-like surface, which has bioengineers intrigued. These cells, they suggest, could hint at new therapeutic possibilities for muscular dystrophy.

Genes and disease mechanisms behind a common form of muscular dystrophy discovered

Thu, 12 Jan 2012 13:43:43 EST

Continuing a series of groundbreaking discoveries begun in 2010 about the genetic causes of the third most common form of inherited muscular dystrophy, scientists have identified the genes and proteins that damage muscle cells, as well as the mechanisms that can cause the disease.

Enzyme function could help with muscular dystrophy therapies

Mon, 09 Jan 2012 14:59:59 EST

Researchers have worked out the exact function of an enzyme that is critical for normal muscle structure and is involved in several muscular dystrophies. The findings could be used to develop rapid, large-scale testing of potential muscular dystrophy therapies.

Some muscular dystrophy patients at increased risk for cancer

Tue, 13 Dec 2011 19:00:00 EST

People who have the most common type of adult muscular dystrophy also have a higher risk of getting cancer, according to a paper published today in the Journal of the American Medical Association. Patients with myotonic muscular dystrophy are at increased risk for cancer of the brain, ovary, colon, and the uterine lining known as the endometrium.

Adult stem cells use special pathways to repair damaged muscle, researchers find

Thu, 01 Dec 2011 16:36:36 EST

Researchers recently found how even distant satellite cells could help with the repair, and are now learning how the stem cells travel within the tissue. This knowledge could ultimately help doctors more effectively treat muscle disorders such as muscular dystrophy, in which the muscle is easily damaged and the patient's satellite cells have lost the ability to repair.

Clinical trial for muscular dystrophy demonstrates safety of customized gene therapy

Wed, 30 Nov 2011 11:58:58 EST

Researchers have shown that it is safe to cut and paste together different viruses in an effort to create the ultimate vehicle for gene therapy. In a phase I clinical trial, the investigators found no side effects from using a "chimeric" virus to deliver replacement genes for an essential muscle protein in patients with muscular dystrophy.

Closer to finding treament for Duchenne muscular dystrophy

Mon, 28 Nov 2011 12:13:13 EST

Academics have made an important breakthrough in the development of a treatment for Duchenne muscular dystrophy (DMD).

Hope for muscle wasting disease

Tue, 22 Nov 2011 11:32:32 EST

A health supplement used by bodybuilders could be the key to treating a life-threatening muscular dystrophy affecting tens of thousands of children world-wide, new research shows. The amino acid L-tyrosine had a "rapid and dramatic impact" on Nemaline Myopathy in laboratory tests on mice, significantly improving symptoms of the muscle-wasting disease, medical researchers found.

X marks the spot: TBL1X gene involved in autism spectrum disorder

Thu, 03 Nov 2011 21:26:26 EDT

Autism spectrum disorder affects about one in 100 children resulting in a range of problems in language, communication and understanding other people's emotional cues, all of which can lead to difficulties in social situations. New research used genome wide association study data to find a variation in the gene for transducin beta-like 1X-linked (TBL1X) which is associated with increased risk of ASD in boys.

New insight into fatal spinal disease

Mon, 26 Sep 2011 15:17:17 EDT

Researchers have identified a communication breakdown between nerves and muscles in mice that may provide new insight into the debilitating and fatal human disease known as spinal muscular atrophy.

Study explains why muscles weaken with age and points to possible therapy

Tue, 02 Aug 2011 12:55:55 EDT

Researchers have discovered the biological mechanism behind age-related loss of muscle strength and identified a drug that may help reverse this process.

Clinical trial of molecular therapy for muscular dystrophy yields significant positive results

Mon, 25 Jul 2011 12:34:34 EDT

A molecular technique has taken one step closer to becoming a treatment for the devastating genetic disease Duchenne muscular dystrophy.

Crucial role for molecule in muscle development

Mon, 04 Jul 2011 15:14:14 EDT

Researchers have discovered the crucial role of a molecule in skeletal muscle development. The finding could have implications in the future for maintenance of healthy muscle or muscle regeneration in certain diseases, for example cancer and neuromuscular conditions such as muscular dystrophy.

Gene necessary for successful repair of muscle damage identified

Tue, 19 Apr 2011 16:58:58 EDT

Scientists are a step closer to treating, and perhaps preventing, muscle damage caused by neurodegenerative disorders and other forms of disease. They have discovered that the gene polymerase I and transcript release factor, or PTRF, is an essential component of the cell process that repairs damaged muscle tissue. This discovery has the potential to lead to development of therapeutic treatment for patients who suffer from severe complications of diseases such as muscular dystrophy, cardiovascular disorders and other degenerative conditions.

Gene that could hold the key to muscle repair identified

Mon, 18 Apr 2011 09:38:38 EDT

Researchers have long questioned why patients with Duchenne muscular dystrophy (DMD) tend to manage well through childhood and adolescence, yet succumb to their disease in early adulthood, or why elderly people who lose muscle strength following bed rest find it difficult or impossible to regain. Now, researchers are beginning to find answers in a specialized population of cells called satellite cells.

Biologists find another clue to the origins of degenerative diseases

Mon, 11 Apr 2011 10:37:37 EDT

A research team shows that cell death can also result from the process by which the cell repairs damage that occurs within a repeated CAG/CTG sequence. Their findings increase understanding of how diseases like Huntington's develop in humans.