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

  • S. Iachettini IRCCS-Policlinico San Donato, Italy.
  • R. Valaperta IRCCS Policlinico San Donato, Italy.
  • A. Marchesi IRCCS Policlinico San Donato, University of Milan, Italy.
  • A. Perfetti IRCCS Policlinico San Donato, Italy.
  • G. Cuomo IRCCS-Policlinico San Donato, Italy.
  • B. Fossati IRCCS Policlinico San Donato, University of Milan, Italy.
  • L. Vaienti IRCCS Policlinico San Donato, University of Milan, Italy.
  • E. Costa IRCCS Policlinico San Donato, Italy.
  • G. Meola IRCCS Policlinico San Donato, University of Milan, Italy.
  • R. Cardani | rosanna.cardani@grupposandonato.it IRCCS-Policlinico San Donato, Italy.

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.

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Author Biographies

S. Iachettini, IRCCS-Policlinico San Donato
Laboratory of Muscle Histopathology and Molecular Biology
R. Valaperta, IRCCS Policlinico San Donato
Research Laboratories; Service of Laboratory Medicine 1 – Clinical Pathology.
A. Marchesi, IRCCS Policlinico San Donato, University of Milan
Department of Plastic and Reconstructive Surgery
A. Perfetti, IRCCS Policlinico San Donato
Laboratory of Molecular Cardiology
G. Cuomo, IRCCS-Policlinico San Donato
Laboratory of Muscle Histopathology and Molecular Biology
B. Fossati, IRCCS Policlinico San Donato, University of Milan

Department of Biomedical Science for Health

L. Vaienti, IRCCS Policlinico San Donato, University of Milan
Department of Plastic and Reconstructive Surgery
E. Costa, IRCCS Policlinico San Donato
Research Laboratories; Service of Laboratory Medicine 1 – Clinical Pathology
G. Meola, IRCCS Policlinico San Donato, University of Milan
Laboratory of Muscle Histopathology and Molecular Biology; Department of Biomedical Science for Health.
R. Cardani, IRCCS-Policlinico San Donato

Laboratory of Muscle Histopathology and Molecular Biology

Published
2015-10-26
Section
Original Papers
Supporting Agencies
FMM-Fondazione Malattie Miotoniche
Keywords:
Myotonic dystrophy type 1, tibialis anterior, needle biopsy, alternative splicing, clinical trial.
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How to Cite
Iachettini, S., Valaperta, R., Marchesi, A., Perfetti, A., Cuomo, G., Fossati, B., Vaienti, L., Costa, E., Meola, G., & Cardani, R. (2015). Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: a useful tool in myotonic dystrophy type 1. European Journal of Histochemistry, 59(4). https://doi.org/10.4081/ejh.2015.2562