Author Archives: Maureen Newman

Gene Targeting Therapy Investigated in SMA Cells

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…

SMA Patient Muscle is Deficient in Mitochondrial Biogenesis

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…

SMA Severity Correlates with DNA Methylation

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…

Key Neuromuscular Junction Found To Be Impaired in SMA

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…

New PCR Method Helps Determine SMA Type

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,…