By Jackie Syrop
Research, led by Michela Ripolone, PhD, Centro Dino Ferrari, Universita degli Studi Milano, concluded that an altered regulation of myogenesis and a downregulated mitochondrial biogenesis contribute to pathologic changes in the muscle of patients afflicted with spinal muscular atrophy (SMA), recommending that therapeutic strategies aim at counteracting these changes.
Their results were published online in JAMA Neurology on April 6, 2015.
The study investigated mitochondrial dysfunction in a large series of quadriceps muscle biopsy samples from 24 SMA patients with genetically documented disease and paraspinal samples from 3 patients with SMA-II undergoing for surgery for scoliosis correction. Age-matched controls were healthy children 1 to 3 years of age who had undergone analysis for suspected myopathy.
Analyses were conducted from April 2011 to January 2015. Biochemical, histochemical, and molecular techniques were used to examine the muscle samples and to measure respiratory chain activity and mitochondrial content.
