Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary neuromuscular disorder characterized by progressive weakness and atrophy of the facial, shoulder, abdominal and pelvic girdle muscles. We proposed that its pathogenesis could be associated with the over-expression of genes mapped at chromosome 4q35, ANT1, FRG1 and FRG2. Consistently, transgenic mice over-expressing FRG1 develop a progressive muscular dystrophy characterized by symptoms similar to those of human disease and thus it can be considered a reliable mice model to study FSHD. FSHD mouse model shows reduced tolerance to exercise and muscle weakness which can be related to disorders of muscle energy mechanisms.To investigate this hypothesis we have applied 1H and 31P NMR spectroscopy to wild-type and dystrophic vastus muscle PCA extracts to evaluate the muscle energy parameters by measuring the concentration of the major energy metabolites (ATP, ADP, AMP, Pi, Cr and PCr)

In vitro 1H and 31P NMR spectroscopy as a tool for investigating muscle energy state in facioscapulohumeral muscolar dystrophy (FSHD) mouse model / Mucci, Adele; Ghiaroni, Valeria; Muscatello, Umberto; Tupler, Rossella; Schenetti, Luisa. - STAMPA. - ..:(2009), pp. 77-77. (Intervento presentato al convegno XXXIX National Congress on Magnetic Resonance tenutosi a Palermo nel 21-24 settembre).

In vitro 1H and 31P NMR spectroscopy as a tool for investigating muscle energy state in facioscapulohumeral muscolar dystrophy (FSHD) mouse model

MUCCI, Adele;GHIARONI, Valeria;MUSCATELLO, Umberto;TUPLER, Rossella;SCHENETTI, Luisa
2009

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary neuromuscular disorder characterized by progressive weakness and atrophy of the facial, shoulder, abdominal and pelvic girdle muscles. We proposed that its pathogenesis could be associated with the over-expression of genes mapped at chromosome 4q35, ANT1, FRG1 and FRG2. Consistently, transgenic mice over-expressing FRG1 develop a progressive muscular dystrophy characterized by symptoms similar to those of human disease and thus it can be considered a reliable mice model to study FSHD. FSHD mouse model shows reduced tolerance to exercise and muscle weakness which can be related to disorders of muscle energy mechanisms.To investigate this hypothesis we have applied 1H and 31P NMR spectroscopy to wild-type and dystrophic vastus muscle PCA extracts to evaluate the muscle energy parameters by measuring the concentration of the major energy metabolites (ATP, ADP, AMP, Pi, Cr and PCr)
2009
XXXIX National Congress on Magnetic Resonance
Palermo
21-24 settembre
Mucci, Adele; Ghiaroni, Valeria; Muscatello, Umberto; Tupler, Rossella; Schenetti, Luisa
In vitro 1H and 31P NMR spectroscopy as a tool for investigating muscle energy state in facioscapulohumeral muscolar dystrophy (FSHD) mouse model / Mucci, Adele; Ghiaroni, Valeria; Muscatello, Umberto; Tupler, Rossella; Schenetti, Luisa. - STAMPA. - ..:(2009), pp. 77-77. (Intervento presentato al convegno XXXIX National Congress on Magnetic Resonance tenutosi a Palermo nel 21-24 settembre).
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/641760
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