A report on drug development in neuromuscular diseases as of January 2009
posted on January 1, 2009 - 2:37pm
In the era of molecular biology, the drug development process has moved from a “let’s try it and see what happens” approach to a scientifically based process of discovery and application.
For many of the diseases in MDA’s program, drug discovery begins with gene discovery — identifying a gene that, when flawed, causes a disease.
Can toxic genes be blocked to treat disease?
posted on January 1, 2007 - 3:02pm
Since the 1990s, gene therapy - the insertion of functional genes to compensate for nonfunctional ones - has been the goal of researchers working in several muscular dystrophies, spinal muscular atrophy, Friedreich's ataxia, metabolic muscle diseases and myotubular myopathy.
Nerve-cell defense mechanism may hold key to SBMA treatment
posted on January 3, 2009 - 3:13pm
A defense mechanism called “autophagy” that neurons (nerve cells) use to protect themselves from dangerous misfolded proteins may hold the key to developing treatments for spinal-bulbar muscular atrophy (SBMA, or Kennedy disease) and perhaps similar neurodegenerative diseases, new research shows.
Researchers add support to evidence that the blood-spinal cord barrier is abnormally leaky in ALS
posted on May 27, 2009 - 9:00pm
Proteins that keep large molecules from moving freely across blood-vessel walls in the spinal cord appear to be deficient in people with ALS (amyotrophic lateral sclerosis), MDA-supported researchers say. They don't yet know, however, whether a lower-than-normal level of some of these so-called "tight junction" proteins, is helpful or harmful in the disease process.
When ALS-affected nerve cells lose function, their closest neighbors can't protect them
posted on May 8, 2009 - 11:45am
A vicious cycle in which damage to nerve cells (neurons) in the spinal cord results in the loss of an important mechanism to protect neurons, causing more neuron loss, has been identified as a possible contributor to ALS (amyotrophic lateral sclerosis). Identification of this pathway opens the door to targeting it with therapeutic agents.
Scientists use a small molecule to coax synthesis of a needed protein in SMA-affected cells
posted on July 31, 2009 - 10:25am
Scientists at three U.S. institutions have used a very small synthetic molecule to correct the genetic defect in cells taken from a person with spinal muscular atrophy (SMA), a disease in which muscle-controlling nerve cells in the spinal cord are lost.
A new review of the medical literature confirms that smoking significantly raises the risk of developing ALS.
posted on November 17, 2009 - 11:55am
A new analysis says that smoking, already suspected of being a risk factor for amyotrophic lateral sclerosis (ALS), definitely is one. (See the 2004 story, Smoking Is Likely ALS Risk Factor.)
posted on April 1, 2009 - 12:26pm
Story includes research items about: Charcot-Marie-Tooth disease, congenital muscular dystrophy, Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy (EDMD), type 1 myotonic muscular dystrophy, and spinal muscular atrophy - including, type 3 SMA and spinal-bulbar muscular atrophy (SBMA, Kennedy disease).
A research team reports 'unprecedented' improvement in newborn SMA-affected mice that received gene therapy via intravenous injection
posted on March 1, 2010 - 6:33pm
Scientists at four U.S. institutions have successfully used gene therapy to treat very young mice with a disease resembling severe spinal muscular atrophy (SMA). Study results were published online Feb. 28, 2010, in the journal Nature Biotechnology.
British researchers report injections of SMN genes significantly increased life span in mice with a disease resembling spinal muscular atrophy
posted on April 15, 2010 - 4:14pm
A research group from the University of Sheffield in the United Kingdom has found that mice with a disease mimicking human spinal muscular atrophy (SMA) benefited significantly from intravenous transfer of the gene for the SMN (survival of motor neurons) protein. The mice lived significantly longer than untreated mice of the same type.
