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Modulation of Myotilin and Fylamin C in Various Muscle Diseases: A Microarray Analysis

Department of Medical Sciences, Surgicals and Advanced Technologies G.F. Ingrassia, Section of Neuroscience, University of Catania, Via Santa Sofia 78, 95123 Catania, Italy
Department of Biomedical and Biotechnology Sciences, University of Catania, Via Androne 83, 95123 Catania, Italy
Italian Center Studies of Osteopathy, 95123 Catania, Italy
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: Giuseppe Musumeci
J. Funct. Morphol. Kinesiol. 2016, 1(1), 90-101;
Received: 18 January 2016 / Accepted: 4 February 2016 / Published: 19 February 2016
PDF [2318 KB, uploaded 19 February 2016]


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. View Full-Text
Keywords: MYOT; FLNC; ASL; muscle diseases MYOT; FLNC; ASL; muscle diseases

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Sanfilippo, C.; Di Rosa, M. Modulation of Myotilin and Fylamin C in Various Muscle Diseases: A Microarray Analysis. J. Funct. Morphol. Kinesiol. 2016, 1, 90-101.

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J. Funct. Morphol. Kinesiol. EISSN 2411-5142 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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