Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in 3’UTR of DMPK gene. This mutation causes accumulation of toxic RNA in nuclear foci leading to splicing misregulation of specific genes. In view of future clinical trials with antisense oligonucleotides in DM1 patients, it is important to set up sensitive and minimally-invasive tools to monitor the efficacy of treatments on skeletal muscle. A tibialis anterior (TA) muscle sample of about 60 mg was obtained from 5 DM1 patients and 5 healthy subjects through a needle biopsy. A fragment of about 40 mg was used for histological examination and a fragment of about 20 mg was used for biomolecular analysis. The TA fragments obtained with the minimally-invasive needle biopsy technique is enough to perform all the histopathological and biomolecular evaluations useful to monitor a clinical trial on DM1 patients.

Tibialis anterior muscle needle biopsy and sensitive biomolecular methods : a useful tool in myotonic dystrophy type 1 / S. Iachettini, R. Valaperta, A. Marchesi, A. Perfetti, G. Cuomo, B. Fossati, L. Vaienti, E. Costa, G. Meola, R. Cardani. - In: EUROPEAN JOURNAL OF HISTOCHEMISTRY. - ISSN 1121-760X. - 59:4(2015), pp. 243-249. [10.4081/ejh.2015.2562]

Tibialis anterior muscle needle biopsy and sensitive biomolecular methods : a useful tool in myotonic dystrophy type 1

A. Perfetti;L. Vaienti;G. Meola
Penultimo
;
2015

Abstract

Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in 3’UTR of DMPK gene. This mutation causes accumulation of toxic RNA in nuclear foci leading to splicing misregulation of specific genes. In view of future clinical trials with antisense oligonucleotides in DM1 patients, it is important to set up sensitive and minimally-invasive tools to monitor the efficacy of treatments on skeletal muscle. A tibialis anterior (TA) muscle sample of about 60 mg was obtained from 5 DM1 patients and 5 healthy subjects through a needle biopsy. A fragment of about 40 mg was used for histological examination and a fragment of about 20 mg was used for biomolecular analysis. The TA fragments obtained with the minimally-invasive needle biopsy technique is enough to perform all the histopathological and biomolecular evaluations useful to monitor a clinical trial on DM1 patients.
alternative splicing; clinical trial; Myotonic dystrophy type 1; needle biopsy; Tibialis anterior; Cell Biology; Histology; Biophysics
Settore MED/26 - Neurologia
2015
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/426335
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