Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Assessment of a creatine kinase isoform M defect as a cause of myotonic dystrophy and the characterization of two novel CKMM polymorphisms

  • 46 Accesses

  • 10 Citations

Summary

Recent studies have shown the gene encoding creatine kinase isoform M (CKMM) to be very closely linked to the myotonic dystrophy (DM) locus on the long arm of chromosome 19. Given this close linkage to DM and the postulated role of CKMM in skeletal muscle contraction, the possibility of a defect in CKMM causing DM was investigated. CKMM cDNA was isolated from the skeletal muscle of an individual with DM. Sequencing of the CKMM cDNA from the DM chromosome 19 revealed two novel polymorphisms but no translationally significant mutation. This work rules out a defect in the coding segment of CKMM as a cause of DM in this family and, in light of genetic homogeneity shown to date for DM, probably in all cases of DM.

This is a preview of subscription content, log in to check access.

References

  1. Bachinski LL, Liu P, Siciliano M (1989) A gene order for 22 markers on human chromosome 19 (10th International Workshop on Human Gene Mapping). Cytogenet Cell Genet 51:954

  2. Brunner HG, Korneluk RG, Coerwinkel-Driessen M, MacKenzie A, Smeets H, Lambermon HMM, Oost BA van, Wieringa B, Ropers H-H (1989a) Myotonic dystrophy is closely linked to the gene for muscle type creatine kinase (CKMM). Hum Genet 81:308–310

  3. Brunner H, Smeets H, Coerwinkel-Driessen M, Oost BA van, Spaans F, Wieringa B, Ropers H-H (1989b) Linkage map around the myotonic dystrophy locus and evidence for a Charcot Marie Tooth neuropathy on chromosome 19 (10th International Workshop on Human Gene Mapping). Cytogenet Cell Genet 51:971

  4. Chomczynski P, Sacchi N (1987) Single step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156–159

  5. Coerwinkel-Driessen M, Schepens J, Zandvoort P van, Oost B van, Mariman E, Wieringa B (1988) NcoI RFLP at the creatine kinase-muscle type gene locus (CKMM, chromosome 19). Nucleic Acids Res 16:8743

  6. Dunning AM, Talmud P, Humphries SE (1988) Errors in the polymerase chain reaction. Nucleic Acids Res 16:10393

  7. Frischauf AM, Garoff H, Lehrach H (1980) A subcloning strategy for DNA sequence. Nucleic Acids Res 8:5541–5549

  8. Golub EI (1988) ‘One minute’ transformation of competent E. coli by plasmid DNA. Nucleic Acids Res 16:1641

  9. Goto I (1974) Creatine phosphokinase isoenzymes in neuromuscular disorders. Arch Neurol 31:116–119

  10. Hanahan D (1985) Techniques for transformation of E coli. In: Glover DM (ed) DNA cloning, vol I. IRL Press, Washington DC, pp 109–135

  11. Harper PS (1979) Myotonic dystrophy. Saunders, Philadelphia

  12. Hill WG, Robertson A (1968) Linkage disequilibrium in finite populations. Theor Appl Genet 38:226–231

  13. Hulsebos T, Brunner H, Wieringa B, Friedrich U, Smeets D, Oei T, Hustinx T, Scheres J, Wienker T, Humphries S, Myklebost O, Junien C, Haar B, Ropers H-H (1985) Regional assignment of C3, GPI, APOC2 and beta-HCG and their linkage relationships with DM and 19 cen. (8th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 40:658

  14. Korneluk RG, Quan F, Gravel RA (1985) Rapid and reliable sequencing of double stranded DNA. Gene 40:317–323

  15. Korneluk RG, MacKenzie AE, Nakamura Y, Dubé I, Jacob P, Hunter AGW (1989) A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locus. Genomics 5:596–604

  16. Kretz KA, Carson GS, O'Brien JS (1989) Direct sequencing from low melt agarose with Sequenase. Nucleic Acids Res 17:5864

  17. Lusis AJ, Heinzmann C, Sparks RS, Geller R, Sparkes MC, Mohandas T (1985) Regional mapping on human chromosome 19:apolipoprotein E, apolipoprotein C2, low density lipoprotein receptor, peptidase D, and glucose phosphate isomerase. (8th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 40:683

  18. Morimoto K, Harrington WF (1972) Isolation and physical chemical properties of an M-line protein from skeletal muscle. J Biol Chem 247:3052–3061

  19. Neumeier D (1981) Tissue specific and subcellular distribution of creatine kinase isoenzymes. In: Long H (ed) Creatine kinase isoenzymes. Springer, New York Berlin Heidelberg, pp 85–109

  20. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF (1989) Analysis of any point mutation in DNA. The amplification refractory mutation systems (ARMS). Nucleic Acids Res 17:2503–2516

  21. Perryman MB, Kerner SA, Bohlmeyer TJ, Roberts R (1986) Isolation and sequence analysis of a full-length cDNA for human M creatine kinase. Biochem Biophys Res Commun 140:981–989

  22. Perryman MB, Hejtmancik JF, Ashizawa T, Armstrong R, Lin SC, Roberts R, Epstein HF (1988) NcoI and TaqI RFLPs for human creatine kinase (CKMM). Nucleic Acids Res 16:8744

  23. Saiki R (1989) Basic methodology. In: Ehrlich HA (ed) PCR technology. Stockton Press, New York, pp 1–5

  24. Saiki RK, Gelfond DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Hullus KB, Erlich HA (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487–491

  25. Saks VA, Chernousova GB, Vetter R, Smirnov VN, Chazov EI (1976) Kinetic properties and the functional role of particulate MM-isoform of creatine phosphokinase bound to heart muscle myofibrils. FEBS Lett 62:293–296

  26. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463–5467

  27. Shaw DJ, Meredith AL, Sarfarazi M, Huson SM, Brook JD, Myklebost O, Harper PS (1985) The apolipoprotein CII gene: subchromosomal localization and linkage to the myotonic dystrophy locus. Hum Genet 70:271–273

  28. Smeets H, Bachinski L, Coerwinkel M, Schepens J, Hoeijmakers J, Duin M, Grzeschik K-H, Weber CA, Jong P de, Siciliano MJ, Wieringa B (1990) A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes. Am J Hum Genet 46:492–501

  29. Trask RV, Strauss AW, Billadello JJ (1988) Developmental regulation and tissue-specific expression of the human muscle creatine kinase gene. J Biol Chem 263:17142–17149

  30. Wallimann T, Pellon G, Turner DC, Eppenberger HM (1978) Monovalent antibodies against MM-creatine kinase remove the M-line from myofibrils. Proc Natl Acad Sci USA 75:4296–4300

  31. Wallimann T, Moser H, Eppenberger HM (1983) Isoenzyme specific localization of M-line bound creatine kinase in myogenic cells. J Muscle Res Cell Motil 4:429–441

  32. Wallimann T, Schlösser T, Eppenberger HM (1984) Function of M-line bound creatine kinase as intramyofibrillar ATP regenerator at the receiving end of the phosphocreatine shuttle in muscle. J Biol Chem 259:5238–5246

Download references

Author information

Correspondence to Robert G. Korneluk.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Bailly, J., MacKenzie, A.E., Leblond, S. et al. Assessment of a creatine kinase isoform M defect as a cause of myotonic dystrophy and the characterization of two novel CKMM polymorphisms. Hum Genet 86, 457–462 (1991). https://doi.org/10.1007/BF00194633

Download citation

Keywords

  • Internal Medicine
  • Skeletal Muscle
  • Metabolic Disease
  • Creatine
  • Creatine Kinase