Scientists have discovered a physiological chain of events in animal models in which motor neurons and their communication with muscle become disrupted by the mutation that causes spinal muscular atrophy. (more…)
Tag Archives: spinal muscular atrophy
Spinal muscular atrophy is a debilitating neuromuscular disease that in its most severe form is the leading genetic cause of infant death. By experimenting with an ALS drug in two very different animal models, researchers at Brown University and Boston Children’s Hospital have identified a new potential mechanism for developing an SMA treatment.
PROVIDENCE, R.I. [Brown University] — There is no specific drug to treat spinal muscular atrophy (SMA), a family of motor neuron diseases that in its most severe form is the leading genetic cause of infant death in the United States and affects one in 6,000 people overall. But a new multispecies study involving a drug that treats amyotrophic lateral sclerosis (ALS) has pinpointed a mechanism of SMA that drug developers might be able to exploit for a new therapy. (more…)
In an effort to identify the underlying causes of neurological disorders that impair motor functions such as walking and breathing, UCLA researchers have developed a novel system to measure communication between stem cell–derived motor neurons and muscle cells in a Petri dish.
The study provides an important proof of principle that functional motor circuits can be created outside the body using these neurons and cells and that the level of communication, or synaptic activity, between them can be accurately measured by stimulating the motor neurons with an electrode and then tracking the transfer of electrical activity into the muscle cells to which the neurons are connected. (more…)
COLUMBUS, Ohio – An abnormally low level of a protein in certain nerve cells is linked to movement problems that characterize the deadly childhood disorder spinal muscular atrophy, new research in animals suggests.
Spinal muscular atrophy, or SMA, is caused when a child’s motor neurons – nerve cells that send signals from the spinal cord to muscles – produce insufficient amounts of what is called survival motor neuron protein, or SMN. This causes motor neurons to die, leading to muscle weakness and the inability to move. (more…)
*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 led by Brown University researchers. 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 Gehrig’s Disease) and spinal muscular atrophy.*
PROVIDENCE, R.I. [Brown University] — A protein that has shown early promise in preventing the loss of muscle function in mouse models of Duchenne muscular dystrophy, has been found in a new study to be a key player in the process of joining nerves to muscles.
The protein biglycan needs to be present to stabilize synapses at the neuromuscular junction after they have formed, according to research led by Brown University that appears in the Feb. 14, 2012, issue of the Journal of Neruoscience. (more…)
*Spinal Muscular Atrophy affects one in 6,000 children; no known cure*
COLUMBIA, Mo. – A team of University of Missouri researchers have found that targeting a synthetic molecule to a specific gene could help the severity of the disease Spinal Muscular Atrophy (SMA) – the leading genetic cause of infantile death in the world. (more…)
*Discovery could lead to treatments for muscular dystrophy and ALS*
COLUMBIA, Mo. – Researchers at the University of Missouri 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 (SMA).
“Critical communication occurs at the point where nerves and muscles ‘talk’ to each other. When this communication between nerves and muscles is disrupted, muscles do not work properly,” said Michael Garcia, associate professor of biological sciences in the College of Arts and Science and the Christopher S. Bond Life Sciences Center. “In this study, we found that delivery of ‘the words’ a nerve uses to communicate with muscles was disrupted before they arrived at the nerve ending.” (more…)