Patients with spinal muscular atrophy (SMA) are at risk of developing the metabolic disorder ketoacidosis, a less recognized complication that is easy to treat, according to a case study. Researchers behind the work, “Stress-Induced Ketoacidosis in Spinal Muscular Atrophy: An Under-Recognized Complication,” noted that testing for the condition, which…
Researchers may have discovered a new treatment for spinal muscular atrophy (SMA). Identifying a molecule that prevents the SMN2 gene from being read by protein-making machinery, they then showed that getting rid of it increased SMN protein levels. Importantly, the approach also enhanced the effectiveness of a splice-modification drug that works much like the…
The levels of SMN protein — the factor missing in spinal muscular atrophy (SMA) — in skin cells are proportional to the number of copies of the SMN2 gene, and therefore has potential to be used as a marker of disease severity in clinical trials. The study,…
Japanese researchers have identified a new gene that likely gives rise to spinal muscular atrophy (SMA) with severe brain degeneration. The team at the University of Miyazaki studied two sisters who developed atypical SMA shortly after birth. Atypical SMA involves muscle atrophy that is accompanied by other neurological symptoms, such…
Researchers have become quite good at making stem cells grow into neurons in the lab, even without fully understanding the actual cellular processes that accompany the transition. Now, a study describes the sequence of events that make a signaling nerve cell out of an immature stem cell — knowledge that will be…
Blocking molecules that normally act as muscle degrading factors may offer a treatment approach for milder forms of spinal muscular atrophy (SMA), demonstrated in experiments with a mouse model of SMA type 3. The study, “Activin Receptor Type IIB Inhibition Improves Muscle Phenotype and Function in a Mouse Model…
A poor contribution by the ribcage to breathing is a characteristic feature of children with spinal muscular atrophy (SMA) type 1 and 2, and is apparent from infancy. The study, “Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA),” published in the…
A lack of the survival motor neuron 1 (SMN1) protein, the gene mutated in spinal muscular atrophy (SMA), affected liver development in mice — with liver defects evident before muscle symptoms start showing. The study, “Survival Motor Neuron (SMN) protein is required for normal mouse liver development,” published in the…
In a study partly funded by Cure SMA, researchers from Ottawa Hospital Research Institute show that patterns of muscle breakdown in spinal muscular atrophy (SMA), occurring before any apparent neurodegeneration is taking place, differ depending on the severity of disease in mice. The report, “Differential induction…
Diminished levels of the survival of motor neuron (SMN) protein causes spinal muscular atrophy (SMA), and also disrupts a process called endocytosis — crucial for the transfer of nerve signals between cells. The findings, published in the journal PNAS in the study, “Decreased function of survival motor neuron…
