Children with spinal muscular atrophy (SMA) have weaker muscles than children who are not affected by muscle myopathies and new results from a study conducted at Washington University School of Medicine in St. Louis, Missouri, indicate this muscle weakness may be due to differences in muscle thickness. Researchers used ultrasound…
When a protein is missing in a cell, as in the case of spinal muscular atrophy (SMA) where survival motor neuron (SMN) is missing, a variety of methods can be used to restore function to cells lacking the protein and treat the disease. Direct delivery of the protein or a…
Researchers have understood the genetic basis of spinal muscular atrophy (SMA) for many years. Mutations in the gene that encodes the protein survival motor neuron (SMN1) are the most usual cause of disease, as a mutation leads to a deficiency of SMN. Without this protein, motor neurons die, leading to…
Previously thought to be a disease only of motor neurons, spinal muscular atrophy (SMA) is now also known to be influenced by support cells of the central nervous system. Specifically, astrocytes, which regulate synapse formation between neurons and provide metabolic support for neurons, are essential to the pathogenesis of SMA…
Patients with spinal muscular atrophy (SMA) exhibit many signs of mitochondrial paucity. Weakened muscles and other pathologic muscle changes are accompanied by decreased levels of mitochondrial DNA (mtDNA) and decreased levels of mitochondrial respiratory chain complex proteins, such as complex II. Although all signs lead to decreased levels of…
Patients with spinal muscular atrophy (SMA) are subdivided into four categories based on disease severity and age of diagnosis, with type I the most severe and diagnosed in infancy and type IV the least severe and diagnosed in adulthood. It is known that the copy number of SMN2 genes…
Researchers in the Division of Pharmacology, Department of Biochemistry and Molecular Biology at Kobe University Graduate School of Medicine in Japan are looking at ways of modeling spinal muscular atrophy (SMA) using cells derived from SMA patients. In a recent report published in Stem…
Determining the exact mutations responsible for spinal muscular atrophy (SMA) can be difficult. The condition is caused by complete deletion of the gene for survival motor neuron 1 (SMN1) in 95% of SMA patients. In the other 5%, only one copy of SMN1 is missing, and the other copy…
Perhaps the result of a gene duplication event 5 million years ago, humans have two copies of the gene for survival motor neuron (SMN). Patients with spinal muscular atrophy (SMA) lack SMN1 and have a missing piece of transcript from SMN2. Although SMN protein produced from SMN2 is shortened…
“This is an exciting time for spinal muscular atrophy (SMA) patients, families and researchers,” indicated an article published in the journal F1000Prime Reports. “Not only are multiple clinical trials based on sound preclinical data completed, underway or planned, we also are rapidly gaining a better…