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

Camilla Bernardini, Federica Censi, Wanda Lattanzi, Marta Barba, Giovanni Calcagnini, Alessandro Giuliani, Giorgio Tasca, Mario Sabatelli, Enzo Ricci, Fabrizio Michetti

Research output: Contribution to journalArticlepeer-review


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, this study attempted to categorize functionally relevant genes within the genome-wide expression profile of human ALS skeletal muscle, using microarray technology and gene regulatory network analysis. The correlation network structures significantly change between patients and controls, indicating an increased inter-gene connection in patients compared to controls. The gene network observed in the ALS group seems to reflect the perturbation of muscle homeostasis and metabolic balance occurring in affected individuals. In particular, the network observed in the ALS muscles includes genes (PRKR1A, FOXO1, TRIM32, ACTN3, among others), whose functions connect the sarcomere integrity to mitochondrial oxidative metabolism. Overall, the analytical approach used in this study offer the possibility to observe higher levels of correlation (i.e. common expression trends) among genes, whose function seems to be aberrantly activated during the progression of muscle atrophy.

Original languageEnglish
Article numbere57739
JournalPLoS One
Issue number2
Publication statusPublished - Feb 28 2013

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)


Dive into the research topics of 'Mitochondrial Network Genes in the Skeletal Muscle of Amyotrophic Lateral Sclerosis Patients'. Together they form a unique fingerprint.

Cite this