MUSCLE BIOPSY Edited by Challa Sundaram Muscle Biopsy Edited by Challa Sundaram Published by InTech Janeza Trdine 9, 51000 Rijeka, Croatia Copyright © 2011 InTech All chapters are Open Access distributed under the Creative Commons Attribution 3.0 license, which allows users to download, copy and build upon published articles even for commercial purposes, as long as the author and publisher are properly credited, which ensures maximum dissemination and a wider impact of our publications. After this work has been published by InTech, authors have the right to republish it, in whole or part, in any publication of which they are the author, and to make other personal use of the work. Any republication, referencing or personal use of the work must explicitly identify the original source. 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DepositPhotos First published December, 2011 Printed in Croatia A free online edition of this book is available at www.intechopen.com Additional hard copies can be obtained from orders@intechweb.org Muscle Biopsy, Edited Challa Sundaram p. cm. ISBN 978-953-307-778-9 free online editions of InTech Books and Journals can be found at www.intechopen.com Contents Preface VII Part 1 Muscle Biopsy: Procedure and Interpretation Chapter 1 Percutaneous Muscle Biopsy: History, Methods and Acceptability 3 Harnish P. Patel, Cyrus Cooper and Avan Aihie Sayer Chapter 2 Approach to the Interpretation of Muscle Biopsy 15 C. Sundaram and Megha S. Uppin Part 2 Muscle Biopsy: Biomedical Research 33 Chapter 3 Generation and Use of Cultured Human Primary Myotubes 35 Lauren Cornall, Deanne Hryciw, Michael Mathai and Andrew McAinch Chapter 4 Membrane Transport in Human Skeletal Muscle 65 Carsten Juel Part 3 Muscle Biopsy: Metabolic Diseases 83 Chapter 5 Evaluation of Mitochondrial Functions and Dysfunctions in Muscle Biopsy Samples 85 Frédéric Capel, Valentin Barquissau, Ruddy Richard and Béatrice Morio Chapter 6 Metabolic Exploration of Muscle Biopsy 111 A.L. Charles, S. Dufour, T.N. Tran, J. Bouitbir, B. Geny and J. Zoll Chapter 7 Skeletal Muscle Mitochondrial Function in Peripheral Arterial Disease: Usefulness of Muscle Biopsy 133 A. Lejay, A.L. Charles, J. Zoll, J. Bouitbir, F. Thaveau, F. Piquard and B. Geny Preface With this book, 'Muscle Biopsy', I published my first book as an editor on diagnostic issues of muscle biopsies - the work which I have cherished for the last 25 years. The use and importance of doing and interpreting a muscle biopsy has come a long way after the first biopsy was performed by Duchenne to diagnose a myopathic condition. Starting as a relatively less attractive field, myology, particularly myopathology, has progressed into one of the most coveted subjects by neurologists, pathologists and basic scientists. With advances in enzyme histochemistry, molecular pathology and gene analysis, the importance of a muscle biopsy in the diagnosis of primary and secondary neuromuscular disorders is increasing. The diagnostic algorithm on a muscle biopsy begins with a systematic and thorough analysis of histochemical and enzyme histochemical stains. The first two chapters of the book deal with these basics of muscle biopsy. The next set of two chapters deals with basic research techniques of cultures of myotubes and membrane transport. These chapters give an in-depth review of basic techniques seldom covered in any other book on muscle biopsy and will be of great help to basic scientists. Mitochondrial disease pathology and pathogenesis has made tremendous progress over the last few years and has given answers to many unexplained neuromuscular and systemic ailments. Mitochondria have also established a role in pathogenesis of diabetes and obesity. Keeping this in mind, we have included three chapters which deal with different aspects of mitochondrial diseases. I am greatly thankful to all the authors of this book for their contributions and hope the readers benefit from the material. Challa Sundaram Department of Pathology, Nizam’s Institute of Medical Sciences, Hyderabad, India Part 1 Muscle Biopsy: Procedure and Interpretation [...]... Site of muscle biopsy It is necessary to sample a muscle which is clinically involved This is decided by clinical examination, course of progression of disease and sometimes by imaging studies It is imperative to biopsy a muscle which is moderately involved Biopsy from severely affected muscle will only show fat and fibrosis and minimally involved muscle may lack diagnostic histological features Biopsy. .. neuromuscular disease is the need of the day and muscle biopsy forms a gold standard in diagnosis of these diseases The indications and techniques of muscle biopsy are discussed in detail in another chapter Close interaction between pathologist and clinician is necessary for optimal utilization of muscle biopsy sample to get diagnostic information The muscle biopsy should be planned only after relevant... on muscle tissue 6 References [1] Anderson JR Recommendations for the biopsy procedure and assessment of skeletal muscle biopsies Virchows Arch 1997 Oct;431(4):227-33 [2] Coggan AR Muscle biopsy as a tool in the study of aging J Gerontol A Biol Sci Med Sci 1995 Nov;50 Spec No:30-4 [3] Edwards R, Young A, Wiles M Needle biopsy of skeletal muscle in the diagnosis of myopathy and the clinical study of muscle. .. site is suitable for biopsy as it is away from major vessels and nerves 3 The other muscles that are good choices for biopsy are biceps and gastrocnemius Tibialis anterior is sampled when indicated by imaging studies Deltoid muscle biopsy is usually avoided as it is a site for injections and may not be 16 Muscle Biopsy involved in all diseases It is always better to standardize the biopsy from a particular... physiological characteristics of muscle such as single fibre contraction properties (2;8) 2 History of muscle biopsy Methodologies enabling the study of muscle tissue have relied on obtaining tissue through post mortem or open muscle biopsy techniques that require general anaesthesia Although open muscle biopsy provides large specimens that enables direct visualization of disease distribution and can include... O'Rourke KS, Blaivas M, Ike RW Utility of needle muscle biopsy in a university rheumatology practice J Rheumatol 1994 Mar;21(3):413-24 [14] O'Rourke KS, Ike RW Muscle biopsy Curr Opin Rheumatol 1995 Nov;7(6):462-8 [15] Bergstrom J Muscle electrolytes in man Scand J Clin Lab Invest 1962;14(suppl 68) [16] Edwards RH Percutaneous needle -biopsy of skeletal muscle in diagnosis and research Lancet 1971 Sep... Interpretation of Muscle Biopsy C Sundaram and Megha S Uppin Department of Pathology, Nizam’s Institute of Medical Sciences, Hyderabad India 1 Introduction The history of muscle biopsy dates back to 1860 when Duchenne first performed a biopsy on a patient with symptoms of myopathy Introduction of enzyme histochemical methods by Victor Dubowitz in 1970 revolutionised the role of muscle biopsy in the diagnosis... percutaneous or ‘semi-open’ muscle biopsy in living subjects without anaesthesia (12) Numerous muscle biopsy needles have since been described (13;14) However, the percutaneous needle introduced by Bergstrom in 1962 (15), similar in characteristic to the 4 Muscle Biopsy needle described by Duchenne, gained popularity through widespread use in diagnostic as well as research (study of normal muscle in relation... fires the needle into the muscle, excising a small piece of tissue The validity of this method compared with the Bergstrom needle in histomorphometric analyses has been tested (19) The semi-open muscle biopsy and micro -biopsy techniques are common, simple and easily learned procedures that have superseded open muscle biopsy in clinical as well as research practice (4;6;17) Any potential risks are reduced... applied Fig 4 The muscle biopsy procedure using the Weil-Blakesley conchotome Percutaneous Muscle Biopsy: History, Methods and Acceptability 9 A Infiltration with local anaesthesia B Placement of biopsy needle into the trigger housing C Skin puncture with the insertion cannula D Insertion of the biopsy needle through the insertion cannula and trigger release E Removal of the of the muscle specimen aided . Transport in Human Skeletal Muscle 65 Carsten Juel Part 3 Muscle Biopsy: Metabolic Diseases 83 Chapter 5 Evaluation of Mitochondrial Functions and Dysfunctions in Muscle Biopsy Samples 85 Frédéric. properties (2;8). 2. History of muscle biopsy Methodologies enabling the study of muscle tissue have relied on obtaining tissue through post mortem or open muscle biopsy techniques that require. possible to obtain muscle tissue and was the first clinician to perform percutaneous or ‘semi-open’ muscle biopsy in living subjects without anaesthesia (12). Numerous muscle biopsy needles have