Biochemistry of muscle membranes in Duchenne muscular dystrophy

Muscle and Nerve - Tập 3 Số 1 - Trang 3-20 - 1980
Lewis P. Rowland1
1H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, and the Department of Neurology, Columbia‐Presbyterian Medical Center, NY

Tóm tắt

AbstractIn Duchenne muscular dystrophy, as in other genetic diseases, there must be a biochemical abnormality. This fundamental genetic fault has not been identified, but several indirect lines of evidence suggest that the surface membranes of skeletal muscle are affected. The biochemical evidence implies abnormal egress of soluble enzymes and other proteins from muscle, abnormal permeability, and altered properties of membrane‐bound enzymes. As a result of the presumed genetic abnormality, functional properties are altered, and impaired regulation of intracellular calcium content could be responsible for the hallmarks of the disease—progressive weakness and degeneration of muscle. The evidence is by no means conclusive, however, and some of it is contradictory. Technical advances must be made before isolated membranes can be characterized biochemically. Other theories are also being evaluated.

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Tài liệu tham khảo

10.1212/WNL.24.9.834

10.1212/WNL.27.11.1093

10.1001/archneur.1978.00500330025004

10.1016/S0140-6736(78)92221-3

10.1016/0009-8981(78)90095-5

10.1001/archneur.1971.00480320115012

Austin L, 1979, Membrane‐bound enzyme in Duchenne muscular dystrophy, Muscle & Nerve, 2, 309

10.1016/0009-8981(73)90483-X

10.1001/archneur.1971.00480320104011

10.1007/BF01494492

Beckmann R, 1977, Detection of preclinical Duchenne muscular dystrophy and its female carriers, Isr J Med Sci, 13, 18

10.1016/S0140-6736(78)91419-8

Beckmann R, 1976, Screening auf erhöte CK‐Acktivitäten zur Früherkennung der Duchenne Muskel‐dystrophie, Kinderärzt, 7, 1267

Beringer VM, 1977, Response of serum muscle enzymes to hydrocortisone in patients with myopathy, Isr J Med Sci, 13, 52

Beyer P, 1977, Deformation des erythrocytes chez les sujets atteints de myopathie de Duchenne de Bologne, Presse Med, 6, 1663

10.1212/WNL.28.5.439

Boelliner SW, 1965, Plasma and erythrocyte magnesium in muscular dystrophy, Am J Dis Child, 110, 172

10.1002/ana.410040205

Bonsett CA, 1979, Intracellular lipid in pseudohypertrophic muscular dystrophy tissue culture, J Indiana State Med Assoc, 72, 184

10.1016/0022-510X(77)90075-2

Bosia A, 1970, Muscle Diseases, 309

10.1111/j.1365-2362.1971.tb00551.x

10.1001/archneur.1976.00500020063010

10.1016/S0140-6736(77)91901-8

10.1007/BF00313369

10.1212/WNL.28.7.670

10.1056/NEJM197802162980715

10.1212/WNL.14.12.1091

10.1126/science.157.3796.1577

10.1212/WNL.29.2.239

10.1016/0005-2736(77)90056-6

10.1038/263159a0

10.1007/BF00312801

10.1016/0002-8703(78)90367-8

10.1093/brain/102.1.147

Caswell AH, 1978, Badrenergic receptor and adenylate cyclase in transverse tubules of skeletal muscle, J Biol Chem, 253, 3049, 10.1016/S0021-9258(17)40801-5

10.1136/jnnp.41.9.805

Chazot G, 1972, Modifications de l'activité de la creatine phosphokinase serique sous l'influence du gluconate de lithium dans la myopathie de Duchenne, Lyon Med, 228, 421

10.1016/0304-4165(75)90187-7

10.1001/archneur.1976.00500070022004

Cohen L, 1975, Effect of pretreatment with prednisolone on enzyme efflux from isolated skeletal and heart muscle, Res Commun Chem Pathol Pharmacol, 2, 363

10.3181/00379727-140-36562

Cohen L, 1971, Serum enzyme lowering and other effects of diethylstilbestrol (DIES) in Duchenne's muscular dystrophy, J Lab Clin Med, 78, 797

Corsini F, 1958, La glicolisi e l'aldolasi eritrocitarie nella distrofia muscolare, Clin Pediatr (Bologna), 40, 743

10.1016/0022-510X(75)90232-4

10.1016/S0140-6736(77)90862-5

10.1007/BF00314052

Danon MJ, 1977, Erythrocyte metabolism in muscular dystrophy, Neurology (Minneap), 27, 398

10.1001/archneur.1978.00500330040008

10.1016/0026-0495(69)90126-7

10.1042/bst0040723

10.1159/000115060

10.1001/archneur.1966.00470090093013

10.1016/S0926-6593(66)80129-7

10.1002/cpt1975181104

10.1016/0002-9343(68)90184-8

Dhalla NS, 1973, Alterations of adenosine triphosphatase activities in dystrophic muscle sarcolemma, Res Commun Chem Pathol Pharmacol, 6, 643

10.1001/archneur.1976.00500030060013

10.1001/archneur.1973.00490210066009

10.1016/0006-291X(77)91145-7

DoboszI: Personal communication 1979.

10.1016/0009-8981(75)90229-6

Dowben RM, 1959, Erythrocyte electrolytes in muscle diseases, J Lab Clin Med, 54, 867

10.1016/S0140-6736(74)90071-3

Dreyfus JC, 1962, Biochemistry of Hereditary Myopathies

10.1016/0009-8981(58)90010-X

10.1172/JCI102950

10.1016/S0140-6736(78)90021-1

10.1007/BF02034655

Dunn M, 1958, The disapperance rate of glutamic oxaloacetic transaminase from the circulation and its distribution in the body's fluid compartments and secretions, J Lab Clin Med, 51, 259

Ebashi S, 1959, High creatine phosphokinase activity of sera of progressive muscular dystrophy patients, J Biochem (Tokyo), 46, 103

Ellis DA, 1978, The Biochemistry of Myasthenia Gravis and Muscular Dystrophy, 245

10.1038/2011044a0

10.1038/266472a0

10.1016/S0140-6736(79)91264-9

10.1111/j.1399-0004.1977.tb00922.x

10.1111/j.1399-0004.1979.tb01777.x

10.1136/jnnp.40.4.313

Engel WK, 1977, Treatment of Neuromuscular Diseases, 197

10.1056/NEJM197902013000514

Fiehn W, 1974, Structure and Function of Normal and Diseased Muscle and Peripheral Nerve, 205

10.1016/0009-8981(78)90278-4

10.1001/jama.236.8.955

Folwer WM, 1967, Quantitative strength measurements in muscular dystrophy, Arch Phys Med Rehabil, 48, 629

10.1001/jama.228.11.1395

10.1111/j.1469-8749.1979.tb01633.x

10.1016/S0140-6736(78)90949-2

Gebhard MM, 1977, Energy metabolism and enzyme release, J Mol Med, 2, 271

Godin DV, 1978, Chemical composition studies of erythrocyte membranes in Duchenne muscular dystrophy, Res Commun Chem Pathol Pharmacol, 20, 331

10.1007/BF01487713

10.1111/j.1399-0004.1978.tb02143.x

10.1056/NEJM197904123001515

10.1001/jama.238.4.325

10.1016/0009-8981(70)90277-9

Grassi E, 1977, Il problema delle alterazioni eritrocitarie (echino e stromatocitche) nella distrofia muscolare, Ateno Parmense [Acta Biomed], 48, 297

10.1212/WNL.28.8.842

10.1016/0003-9861(78)90020-6

10.1016/S0140-6736(78)92117-7

10.1056/NEJM197904123001516

Hausmanowa‐Petrusewicz I, 1977, Pathogenesis of Human Muscular Dystrophies, 32

10.1212/WNL.28.12.1224

Heyck H, 1967, Exploratory Concepts in Muscular Dystrophy, 232

10.1007/978-3-642-47429-3

Highman B, 1960, Serum enzyme rise after hypoxia and effect of autonomic blockade, Am J Physiol, 199, 981, 10.1152/ajplegacy.1960.199.6.981

10.1002/art.1780190621

10.1016/0022-510X(77)90019-3

Hoffstein S, 1975, Colloidal lanthanum as a marker for impaired plasma membrane permeability in ischemic dog myocardium, Am J Pathol, 79, 207

Hooshmand H, 1975, Serum lactate dehydrogenase isoenzymes in neuromuscular diseases, Dis Nerv Syst, 36, 607

10.1212/WNL.19.1.26

10.1016/0306-9877(77)90064-0

10.1007/BF01851319

10.1038/251724a0

10.1126/science.910129

10.1212/WNL.29.7.992

10.1111/j.1600-0404.1977.tb05659.x

10.1002/ana.410050202

10.1016/S0140-6736(78)92118-9

10.1016/0006-2944(77)90074-6

10.1016/0304-3940(76)90032-X

10.1016/0009-8981(78)90240-1

10.1016/0009-8981(77)90391-6

10.1016/0009-8981(76)90175-3

10.1002/mus.880010407

Ketelsen UP, 1977, Ultrastructure of dystrophic skeletal muscle, Isr J Med Sci, 13, 23

Khoklov AP, 1978, Characteristics of cyclic 3′,5′‐AMP turnover in patients with progressive muscular atrophy, Vopr Med Khim, 27, 754

Kim HD, 1979, Factors influencing osmotic fragility of Duchenne red blood cells, Ann Neurol, 6, 153

KitoE YamamotoM ItagoE KishidaT KamiyaK:Cyclic nucleotides in plasma and muscle of progressive muscular dystrophy. IVth International Congress on Neuromuscular Diseases Montreal 1978 abstract199.

10.1126/science.163.3866.492

10.1016/0009-8981(70)90041-0

10.3181/00379727-133-34694

10.1016/0009-8981(78)90303-0

10.1016/0009-8981(79)90257-2

10.1016/0009-8981(76)90361-2

Konttinen A, 1964, Serum enzymes in endotoxin shock, Am J Physiol, 207, 385, 10.1152/ajplegacy.1964.207.2.385

10.1016/0009-8981(78)90307-8

Kremzner LT, 1978, Polyamine metabolism in normal and dystrophic muscle, Adv Polyamine Res, 2, 241

Kuby SA, 1977, Isolation of human ATP‐creatine transphophorylases (creatine phosphokinases) from tissues of patients with Duchenne muscular dystrophy, J Biol Chem, 252, 8382, 10.1016/S0021-9258(19)75230-2

10.1016/0003-9861(79)90626-X

Kunze D, 1977, Pathogenesis of Human Muscular Dystrophies, 404

Kunze D, 1968, Veranderungen des Lipidgehaltes der Skelettmuskulatur bei progressiver Muskeldystrophie als Basis einer Hypothese uber den primaren Enzymdefekt, Acta Biol Med Ger, 24, 669

10.1016/0009-8981(73)90471-3

Kwok CT, 1978, Erythrocyte acyl‐CoA: lysophosphatidylcholine transferase and phospholipase C in Duchenne muscular dystrophy, Aust Biochem Soc Proc, 11, 115

10.1016/0005-2736(89)90013-8

Lau YH, 1979, Lipid analysis and freeze‐fracture studies on isolated transverse tubules and sarcoplasmic reticulum subfractions of skeletal muscle, J Biol Chem, 254, 540, 10.1016/S0021-9258(17)37949-8

Laudahn G, 1974, Methods of Enzymatic Analysis, 37

Layzer RB, 1977, Pathogenesis of Human Muscular Dystrophies, 395

10.1016/0005-2744(79)90259-6

10.1136/bmj.2.6132.252

10.1126/science.760213

10.1136/bmj.3.5981.467-a

Lunt GG, 1978, The Biochemistry of Myasthenia Gravis and Muscular Dystrophy

10.1212/WNL.29.6.835

10.1016/0009-8981(74)90210-1

10.1056/NEJM197711032971803

10.1016/0009-8981(79)90189-X

10.1212/WNL.26.12.1182

10.1126/science.184.4133.165

10.1126/science.1111115

10.1016/0009-8981(78)90111-0

10.1016/0022-510X(77)90129-0

10.1212/WNL.26.11.1021

10.1001/archneur.1976.00500070031006

10.1001/archneur.1974.00490310098016

10.1136/jnnp.40.10.979

10.1001/archneur.1979.00500420061007

10.1126/science.1111115

10.1097/00000542-197802000-00012

10.1126/science.1215993

10.1001/archneur.1976.00500030028005

Miyoshi K, 1978, Radioimmunoassay for human myoglobin: methods and results in patients with skeletal muscle or myocardial disorders, J Lab Clin Med, 92, 341

10.1212/WNL.25.12.1111

Mollman J, 1979, Alteration in calcium transport by Duchenne erythrocytes, Neurology (Minneap), 29, 557

Morgan J, 1977, Penicillamine effects on enzyme efflux from skeletal and heart muscle, Res Commun Chem Pathol Pharmacol, 17, 295

Morgan J, 1976, Disparate effects of diethylstilbestrol and prednisolone on enzyme efflux from heart and skeletal muscle, Res Commun Chem Pathol Pharmacol, 15, 149

10.1001/jama.1973.03230130024009

10.1212/WNL.27.1.96

Nakane K, 1972, Change of serum creatine phosphokinase activity after exercise in Duchenne type of progressive muscular dystrophy, Nagoya J Med Sci, 17, 203

10.1016/S0140-6736(79)91147-4

10.1007/BF00313489

Oberc MA, 1977, Ultrastructural localization of calcium in normal and abnormal skeletal muscle, Lab Invest, 36, 566

10.1016/0009-8981(66)90132-X

10.1016/0024-3205(78)90420-4

10.1111/j.1399-0004.1978.tb02060.x

Pennington RJ, 1977, Pathogenesis of Human Muscular Dystrophies, 341

Pennington RJT, 1977, Proteinases in Mammalian Cells and Tissues, 515

Pennington RJT, 1978, The Biochemistry of Myasthenia Gravis and Muscular Dystrophy, 225

10.1016/0009-8981(60)90022-X

10.1038/258147a0

Peter JB, 1969, Proceedings of the 2nd International Congress on Neurogenetics and Neuroophthalmalogy, 237

Peter JB, 1974, Exploratory Concepts in Muscular Dystrophy II, 479

Peter JB, 1973, Basic Research in Myology, 209

10.1016/0006-2944(69)90040-4

Peter JB, 1969, Erythrocyte ghost adenosine triphosphatase in Duchenne dystrophy, J Lab Clin Med, 74, 103

Phornphutkul KS, 1974, Causes of increased plasma creatine kinase activity after surgery, Clin Chem, 20, 340, 10.1093/clinchem/20.3.340

10.1056/NEJM197810192991601

10.1093/clinchem/16.2.71

10.3181/00379727-141-36802

10.1097/00005072-197809000-00009

Qureshi AR, 1976, The fate of circulating lactate dehydrogenase‐5 in the rabbit, Clin Sci Mol Med, 50, 1

10.1126/science.663625

10.1007/BF01492249

10.1016/0009-8981(73)90266-0

10.1111/j.1749-6632.1979.tb56587.x

10.1016/0009-8981(79)90337-1

10.1016/0022-510X(76)90170-2

10.1016/0022-510X(76)90264-1

10.1212/WNL.27.5.414

Rowland LP, 1964, Muscular dystrophies and related diseases: metabolic aspects, Manitoba Med Rev, 44, 540

Rowland LP, 1975, CPK in neuropsychiatric diseases, Res Proc Assoc Res Nerv Ment Dis, 54, 209

10.1001/archneur.1976.00500050001001

Rowland LP, 1977, Pathogenesis of Human Muscular Dystrophies

Rowland LP, 1979, Current Topics in Nerve and Muscle Research, 16

RowlandLP:The membrane theory of Duchenne muscular dystrophy. In Sprefico F Garantini S (Editors):Frontiers of Muscular Dystrophy in press.

RowlandLP LayzerRB: X‐linked muscular dystrophies.In Handbook of Neurology in press.

10.1001/archneur.1968.00470330062006

Rowland LP, 1960, Serum enzymes in the myopathies, Trans Am Neurol Assoc, 85, 15

10.1016/S0025-7125(16)32319-7

10.1016/0022-510X(70)90041-9

10.1016/0009-8981(78)90365-0

10.1016/0022-510X(79)90141-2

Russell DH, 1979, Urinary polyamine levels in Duchenne muscular dystrophy, Ann Neurol, 6, 154

10.1002/ana.410010204

10.1056/NEJM196901232800403

10.1212/WNL.29.1.122

10.1136/jmg.16.1.49

10.1172/JCI108934

10.1111/j.1600-0404.1979.tb02936.x

Schapira F, 1961, La Fructose‐1‐phospho‐aldolase du séum, Pathol Biol (Paris), 9, 63

Schapira G, 1953, L'élévation du taux de l'aldolase sérique: test biochimique de myopathies, Sem Hop Paris, 29, 1917

Schapira F, 1957, Présence de deux aldolases de type différent dans le sérum, C R Acad Sci, 245, 808

10.1097/00005072-197907000-00006

Schmitt J, 1976, Approche nosographique des myopathies héréditaires. Essai de classification et de diagnostic par les cholinestérases globulaires et les pseudo‐cholinestérases seriques, Rev Neurol (Paris), 132, 481

Schonberg M, 1977, Pathogenesis of Human Muscular Dystrophies, 599

10.1016/S0022-3476(78)80612-X

10.1159/000114955

10.1038/254525a0

Shay JW, 1979, Microtubules and Duchenne muscular dystrophy, Ann Neurol, 6, 147

10.1038/278178a0

10.1172/JCI107450

Sibley JA, 1949, Aldolase in the serum and tissues of tumor‐blaring animals, J Natl Cancer Inst, 9, 303

Sica REP, 1978, The neural hypothesis of muscular dystrophy. A review of recent experimental evidence with particular reference to the Duchenne form, Can J Neurol Sci, 5, 189, 10.1017/S0317167100024549

10.1016/0022-510X(77)90153-8

10.1212/WNL.27.3.230

Silverman LM, 1976, Sarcolemmal membrane changes related to enzyme release in the imipramine/serotonin experimental animal model, Clin Chem, 22, 1710, 10.1093/clinchem/22.10.1710

10.1212/WNL.26.6.561

10.1038/268055a0

10.1136/jmg.14.4.276

10.1212/WNL.29.4.519

10.1001/archneur.1973.00490290083012

10.1016/0022-510X(76)90165-9

Somer H, 1977, Red blood cells in Duchenne muscular dystrophy; increased osmotic fragility, lack of increased enzyme leakage, Neurology (Minneap), 27, 361

SomerH WillnerJ: LDH‐5 in carriers of Duchenne dystrophy.Neurology (Minneap) in press.

Somer H, 1977, Pathogenesis of Human Muscular Dystrophies, 547

10.1007/BF00312990

Soybel D, 1978, Calcium augmentation of enzyme leakage from mouse skeletal muscle and its possible site of action, Res Commun Chem Pathol Pharmacol, 20, 317

10.1016/S0140-6736(77)92567-3

10.1016/S0140-6736(79)92264-5

Sugita H, 1967, Exploratory Concepts in Muscular Dystrophy and Related Disorders, 321

Sugita H, 1963, Pathogenesis of muscular dystrophy, Trans Assoc Am Physicians, 76, 231

10.1016/0306-3623(76)90013-6

10.1016/0022-510X(75)90256-7

10.1016/0009-8981(73)90419-1

Szibor R, 1976, Der Einfluss von Ouabain auf die elektrophoretische Beweglichkeit der Erythrozyten bei 7 Patientin mit progressiver Muskeldystrophie Typ Duchenne, Helv Paediatr Acta, 31, 249

10.1111/j.1399-0004.1979.tb00828.x

10.1001/archneur.1973.00490240040006

10.1001/archneur.1975.00490440039005

10.1016/0009-8981(77)90363-1

Takahashi K, 1978, Adenylate cyclase in Duchenne and Fukuyama type muscular dystrophy, Kobe J Med Sci, 24, 193

10.1212/WNL.28.6.603

10.1056/NEJM197806292982614

10.1038/268241a0

10.1016/0009-8981(75)90035-2

10.1016/0022-510X(71)90182-1

Tzvetanova E, 1978, Serum creatine isoenzymes in progressive muscular dystrophy, Enzyme, 23, 238, 10.1159/000458585

Verrill HL, 1977, Diminished cap formation in lymphocytes from patients and carriers of Duchenne muscular dystrophy, Clin Chem, 23, 2341, 10.1093/clinchem/23.12.2341

Vickers JD, 1978, Alterations of membrane phosphorylation in erythrocyte membranes from patients with Duchenne muscular dystrophy, Can J Neurol Sci, 5, 437, 10.1017/S0317167100024239

10.1212/WNL.29.5.670

Watters G, 1977, Post‐anesthetic augmentation of muscle damage as a presenting sign in three patients with Duchenne muscular dystrophy, Can J Neurol Sci, 4, 228

10.1002/path.1711230307

10.1139/o69-052

10.1038/194287b0

10.1073/pnas.75.2.838

Wilkinson JH, 1974, Effect of energy‐rich compounds on the release of intracellular enzymes from human leukocytes and rat leukocytes, Clin Chem, 20, 1331, 10.1093/clinchem/20.10.1331

10.1038/249662a0

10.1177/000456327501200119

WillnerJ CerriC SomerH RowlandLP:Adenyl cyclase: abnormal in Duchenne carrier musle. Abstracts of the IVth International Congress on Neuromuscular Diseases 1978.

Willner JH, 1979, Malignant hyperthermia: abnormal cyclic AMP metabolism in skeletal muscle, Neurology (Minneap), 29, 557

10.1111/j.1469-185X.1977.tb00856.x

Wood DS, 1979, Malignant hyperthermia: relation of sarcoplasmic reticulum to pathogenesis, Neurology (Minneap), 29, 557

10.1212/WNL.28.5.447

10.1126/science.187.4181.1075

10.1016/S0140-6736(76)92781-1

10.1016/S0140-6736(77)91768-8

Yasmineh WG, 1978, Isoenzyme distribution of creatine kinase and lactate dehydrogenase in serum and skeletal muscle in Duchenne muscular dystrophy, collagen disease, and other muscular disorders, Clin Chem, 24, 1985, 10.1093/clinchem/24.11.1985

Yoshioka M, 1977, Human skeletal muscle fibers in normal and pathological states. Freeze‐etch replica observations, J Electron Microsc (Tokyo), 26, 103

Zierler KL, 1957, Diffusion of aldolase from rat skeletal muscle: an index of membrane permeability, Am J Physiol, 190, 201, 10.1152/ajplegacy.1957.190.2.201

10.1111/j.1749-6632.1958.tb36869.x

Zierler KL, 1958, Aldolase leak from muscle of mice with hereditary muscular dystrophy, Bull Johns Hopkins Hosp, 102, 17