McArdle's disease: The unsolved mystery of the reappearing enzyme

American Journal of Pathology

Volumn 154, Issue 6, 1999, Pages 1893-1897

  Martinuzzi, Andrea ^a,c   Schievano, Giuliana ^b   Nascimbeni, Annachiara ^b   Fanin, Marina ^b  

^a Medea Scientific Institute   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c ULSS 2 Marca Trevigiana   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN PHOSPHORYLASE; PHOSPHORYLASE;

ARTICLE; ENZYME ACTIVITY; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; MUSCLE BIOPSY; PRIORITY JOURNAL;

EID: 0033023567     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)65447-8     Document Type: Article

References (22)

1. Di Mauro S, Tsujino S: Nonlysosomal glycogenoses. Myology, ed 2. Edited by Engel AG, Banker BQ. New York, McGraw-Hill, 1994, pp 1554-1576
2. Newgard CB, Littman DR, van Genderen C, Smith M, Fletterick RJ: Human brain glycogen phosphorylase: cloning, sequence analysis, chromosomal mapping, tissue expression and comparison with the human liver and muscle isozymes. J Biol Chem 1988, 83:8132-8136
3. Newgard CB, Norkiewicz B, Hughes SD, Frenkel RA, Coats WS, Martiniuk F, Johnston JM: Developmental expression of glycogenolytic enzymes in rabbit tissues: possible relationship to fetal lung maturation. Biochim Biophys Acta 1991, 1090:333-342
4. Tsujino S, Shanske S, Nonaka I, DiMauro S: The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). Muscle Nerve 1995, 18(suppl 3):S23-S27
5. Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tottenborn B, Pongratz D, Lindemuth R, Tagenthoff M, Malin JP, Kilimann MW: Mutation analysis in myophosphorylase deficiency (McArdle's disease). Ann Neurol 1998, 43:326-331
6. Martinuzzi A, Tsujino S, Vergani L, Schievano G. Cadaldini M, Bartoloni L, Fanin M, Siciliano G, Shanske S, DiMauro S, Angelini C: Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy. J Neurol Sci 1995, 137:14-19
7. Andreu AL, Bruno C, Gamez J, Shanske S, Cervera C, Navarro C, Arbos MA, Tamburino L, Schwartz S, DiMauro S: Molecular genetic analysis of McArdle's disease in Spanish patients. Neurology 1998, 51:260-262
8. Roelofs RI, Engel WK, Chauvin PB: Histochemical demonstration of phosphorylase activity in regenerating skeletal muscle fibres from myophosphorylase deficient patients. Science 1972, 177:795-797
9. Mitsumoto H: McArdle disease: phosphorylase activity in regenerating muscle fibers. Neurology 1979, 29:258-262
10. Sato K, Imai I, Hatayama I, Roelofs RI: Characterization of glycogen phosphorylase isoenzymes present in cultured skeletal muscle from patients with McArdle's disease. Biochem Biophys Res Commun 1977, 78:663-668
11. DiMauro S, Arnold S, Miranda A, Rowland LP: McArdle disease: the mystery of reappearing phosphorylase activity in muscle culture: a fetal isoenzyme. Ann Neurol 1978, 3:60-66
12. Meienhofer MC, Askanas V, Proux-Daegelen D, Dreyfus JC, Engel WK: Muscle-type phosphorylase activity present in muscle cells cultured from three patients with myophosphorylase deficiency. Arch Neurol 1977, 34:779-781
13. Martinuzzi A, Vergani L, Carrozzo R, Fanin M, Bartoloni L, Angelini C. Askanas V, Engel WK: Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency. J Clin Invest 1993, 92:1774-1780
14. Sassoon DA, Garner I, Buckingham M: Transcripts of α-skeletal actins are early markers for myogenesis in the mouse embryo. Development 1988, 104:155-164
15. Gorin F, Ignacio P, Gelinas R, Carlsen R: Abnormal expression of glycogen phosphorylase genes in regenerated muscle. Am J Physiol 1989, 257:C495-C503
16. van Leeuwen FW, de Kleijn DPV, van den Hurk HH, Neubauer A, Sonnemans MAF, Sluijs JA, Koycu, Ramdjielal RDJ, Salehi A, Martens GJM, Grosveld FG, Burbach JPH, Hol EM: Frameshift mutants of β amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients. Science 1998, 279:242-247
17. Browner MF, Fletterick RJ: Phosphorylase: a biological transducer Trends Biochem Sci 1992, 17:66-71
18. Lebo RV, Anderson LA, Di Mauro S, Lynch E, Hwang P, Fletterick RJ: Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence. Hum Genet 1990, 86:17-24
19. Lockyer JM, Mc Cracken JB Jr: Identification of a tissue specific regulatory element within the human muscle glycogen phosphorylase gene. J Biol Chem 1991, 266:20262-20269
20. Hori K, Mukai T, Joh K, Arai Y, Sakakibara M, Yatsuki H: Stucture and expression of human and rat aldolase isozyme genes: multiple mRNA species of aldolase A produced from a single gene. Isozymes Curr Top Biol Med Res 1987, 14:153-175
21. Nakajima H, Kono N, Yamasaki T, Hotta K, Kuwajima M, Noguchi T. Tanaka T, Tarui S: Tissue specificity in expression and alternative RNA splicing of human phosphofructokinase-M and -L genes. Biochem Biophys Res Commun 1990, 173:1317-1321
22. Wullrich A, Hamacher C, Schneider A, Kilimann MW: The multiphosphorylation domain of the phosphorylase kinase αM and αL subunits is a hotspot of differential mRNA processing and molecular evolution J Biol Chem 1993, 268:23208-23214