Mitochondrial Network Genes in the Skeletal Muscle of Amyotrophic Lateral Sclerosis Patients

• DOI: 10.1371/journal.pone.0057739
• Publication Date: 2013-03-01T13:38:29Z
• Authors: Camilla Bernardini; Federica Censi; Wanda Lattanzi; Marta Barba; Giovanni Calcagnini; Alessandro Giuliani; Giorgio Tasca; Mario Sabatelli; Enzo Ricci; Fabrizio Michetti
• Keywords: Male; 0301 basic medicine; amyotrophic lateral sclerosis; Principal Component Analysis; 0303 health sciences; Science; Q; Amyotrophic Lateral Sclerosis; R; In Vitro Techniques; Middle Aged; Mitochondria; 03 medical and health sciences; Genes, Mitochondrial; Medicine; Humans; Female; Gene Regulatory Networks; Muscle, Skeletal; Transcriptome; Research Article; Aged

Recent evidence suggested that muscle degeneration might lead and/or contribute to neurodegeneration, thus it possibly play a key role in the etiopathogenesis and progression of amyotrophic lateral sclerosis (ALS). To test this hypothesis, study attempted categorize functionally relevant genes within genome-wide expression profile human ALS skeletal muscle, using microarray technology gene regulatory network analysis. The correlation structures significantly change between patients controls, indicating an increased inter-gene connection compared controls. observed group seems reflect perturbation homeostasis metabolic balance occurring affected individuals. In particular, muscles includes (PRKR1A, FOXO1, TRIM32, ACTN3, among others), whose functions connect sarcomere integrity mitochondrial oxidative metabolism. Overall, analytical approach used offer possibility observe higher levels (i.e. common trends) genes, function be aberrantly activated during atrophy.