New insights into SMA are shedding light on the genetics that underscore the development of the disease. In a recent study entitled “EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia,” the authors found mutations in EXOSC8 that cause progressive and…
A recent study entitled “Analysis of the C9orf72 gene in spinal muscular atrophy patients” published in the Amyotrophic Lateral Sclerosis and Frontotemporal Degenerations journal shows no association between a ALS hexanucleotide repeat in the C9orf72 gene with SMA phenotype. Two of the most common motor neuron diseases…
A recent study entitled “SMN regulates axonal local translation via miR-183/mTOR pathway” and published in Human Molecular Genetics journal identifies a new SMN regulated target – the miR-183/mTOR pathway – that contributes to Spinal Muscular Atrophy. Spinal Muscular Atrophy (SMA) is caused by mutations in…
The organization “Families of SMA” which has been working since 1984 to help families suffering the burden of have a child with spinal muscular atrophy, recently announced that it has rebranded itself as “Cure SMA,” refocusing its work on finding a cure for the disease and supporting cutting-edge SMA research. The…
Viable treatments for SMA remain elusive. However, researchers have recently made a series of impressive discoveries in treating the disease while experimenting on mice. These early successes could eventually translate into human therapies that will come to positively treat the disease in the future. A new study entitled “…
Encouraging news from Isis Pharmaceuticals, Inc., presented at the 19th International World Muscle Society Congress in Berlin, demonstrated the efficacy of ISIS-SMNRx in treating spinal muscular atrophy (SMA) in infants and children. Results were from the ongoing open-label Phase 2 clinical trial. Isis is also enrolling patients in the…
Two recent research projects involving studies into Spinal Muscular Atrophy are shedding new light on the deadly condition, which could in turn lead to viable next-generation therapies. The first new study, entitled, “SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled…
Loss of motor function, a short lifespan, and high mortality rate make spinal muscular atrophy a rare yet deadly disease for infants and children. Combined with the fact that no viable FDA-approved treatment currently exists for the disease, SMA has one of the most dire unmet medical needs in healthcare…
A recent study entitled “iPSC-Derived Neural Stem Cells Act via Kinase Inhibition to Exert Neuroprotective Effects in Spinal Muscular Atrophy with Respiratory Distress Type 1” published in Stem Cell Reports suggests therapeutic potential of neural stem cells (NSCs) from human-induced pluripotent stem cells (iPSCs) to…
In a recent study entitled “Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients,” the authors characterized stem cells and motor neuron derivatives from patients with spinal and bulbar muscular atrophy. The study, which was published in the Neurobiology of Disease journal, contributes…
