Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM) are congenital muscular dystrophies caused by abnormalities of Collagen VI due to COLVI gene mutations. The absence of Collagen VI has a major impact inside the fibres by triggering a short circuit in the cell’s energy generators, the mitochondria. This short circuit is caused by opening of a channel called the “Permeability Transition Pore” (PTP), which can be inhibited by the drug cyclosporin A (CsA). To better understand the molecular consequences of collagen VI absence in muscles, the proteome of functionally different and differentially affected muscles such as tibialis, diaphragm and gastrocnemius was investigated. Differential proteome was assessed in 2D-DIGE gels and De Cyder software. The three analysed muscles showed functionally different deregulated proteins. The results indicated that a specific class of proteins were differentially regulated in diaphragm compared to tibialis and gastrocnemius suggesting that disease progression could be influenced by muscle fiber type distribution and function. The effects of CsA treatment were assessed in the same muscles adopting the same proteomic approach indicated above. Two-way ANOVA was applied as statistical test. This analysis provided a global view of changes induced by CsA in muscle tissue identifying a set of molecules as putative targets of CsA treatment. A partial recovery of dysregulated proteins, particularly in gastronemious muscle, was observed according to functional improvements of the muscle. Moreover, its efficacy over time and its specificity remain undisclosed by this preliminary study, even though the results highlight the relevance of this approach.

Differential proteome analysis of functionally different muscles in col6a1-/- mice vs controls in basal condition and after treatment with CsA / C. Gelfi, S. De Palma, M. Vasso, T. Tiepolo, P. Grumati, P. Bonaldo, P. Bernardi. ((Intervento presentato al convegno Protemic forum tenutosi a Berlin nel 2011.

Differential proteome analysis of functionally different muscles in col6a1-/- mice vs controls in basal condition and after treatment with CsA

C. Gelfi
Primo
;
S. De Palma
Secondo
;
M. Vasso;
2011

Abstract

Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM) are congenital muscular dystrophies caused by abnormalities of Collagen VI due to COLVI gene mutations. The absence of Collagen VI has a major impact inside the fibres by triggering a short circuit in the cell’s energy generators, the mitochondria. This short circuit is caused by opening of a channel called the “Permeability Transition Pore” (PTP), which can be inhibited by the drug cyclosporin A (CsA). To better understand the molecular consequences of collagen VI absence in muscles, the proteome of functionally different and differentially affected muscles such as tibialis, diaphragm and gastrocnemius was investigated. Differential proteome was assessed in 2D-DIGE gels and De Cyder software. The three analysed muscles showed functionally different deregulated proteins. The results indicated that a specific class of proteins were differentially regulated in diaphragm compared to tibialis and gastrocnemius suggesting that disease progression could be influenced by muscle fiber type distribution and function. The effects of CsA treatment were assessed in the same muscles adopting the same proteomic approach indicated above. Two-way ANOVA was applied as statistical test. This analysis provided a global view of changes induced by CsA in muscle tissue identifying a set of molecules as putative targets of CsA treatment. A partial recovery of dysregulated proteins, particularly in gastronemious muscle, was observed according to functional improvements of the muscle. Moreover, its efficacy over time and its specificity remain undisclosed by this preliminary study, even though the results highlight the relevance of this approach.
2011
Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica
Differential proteome analysis of functionally different muscles in col6a1-/- mice vs controls in basal condition and after treatment with CsA / C. Gelfi, S. De Palma, M. Vasso, T. Tiepolo, P. Grumati, P. Bonaldo, P. Bernardi. ((Intervento presentato al convegno Protemic forum tenutosi a Berlin nel 2011.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/165809
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