Abstract
The cytoskeletal protein plays a significant role in the stability of thin filaments during muscle contraction. Mutations in these genes have been associated with various muscles diseases. Myotilin (MYOT) and Fylamin C (FLNC) belong to the cytoskeleton protein family and are associated with different myopathies. We analyzed two microarray datasets obtained from the NCBI Gene Expression Omnibus databank (accession number GDS2855 and GDS1956) in order to verify the modulation of MYOT and FLNC in eight human skeletal muscle diseases. For these studies we also used: the open source tools the Human Protein Atlas to confirm by Immunohistochemistry (IH) the MYOT and FLNC tissue expression; Genome-scale Integrated Analysis of gene Networks in Tissues (GIANT) to identify the genes network; COMPARTMENT to identify the localization in cells. We showed that both MYOT and FLNC were significantly modulated in various muscle diseases. In particular, MYOT and FLNC mRNA were significantly downregulated in Acute quadriplegic myopathy (AQM) and Amyotrophic Lateral Sclerosis (ALS) compared to normal human skeletal muscle. Furthermore, the GIANT analysis showed a relationship confidence of 0.23 to MYOT and FLNC, confirming their strong correlation. These data provide to support our hypothesis that a positive correlation exists between MYOT and FLNC. Larger studies are needed to evaluate if MYOT and FLNC may be a promising clinical biomarker in subjects with diseases of the muscle.
Highlights
Skeletal muscle is an organ system specialized in locomotion and energy metabolism in multicellular organisms
We showed that both MYOT and Fylamin C (FLNC) were significantly modulated in various muscle diseases
We analyzed two microarray datasets obtained from the NCBI (Available online: http://www.ncbi.nlm.nih.gov/) under accession number GDS2855 and GDS1956 in order to define a correlation between the MYOT and FLNC, gamma (FLNC) gene in biopsies of eight muscle specimens from patients with various muscle diseases compared to 18 healthy human skeletal muscle donor
Summary
Skeletal muscle is an organ system specialized in locomotion and energy metabolism in multicellular organisms. Degeneration of muscle cell integrity caused by genetic mutations or degenerative diseases leads to progressive muscle wasting with harmful consequences, including dysfunction and early death. Mutations in a wide range of proteins, including many structural proteins and enzymes that post-translationally modify some of these proteins, have been implicated in muscular dystrophy [1]. The muscles and neurons supplying muscle operate as a functional unit, and disease of both systems results in muscular atrophy (wasting) and paralysis. We can observe two different clinical presentations. Muscle weakness typical of upper motor neuron
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