INCREASE OF DMPK AND DECREASE OF DMAHP GENE EXPRESSION IN MUSCLE AND BLOOD OF MYOTONIC DYSTROPHY PATIENTS COMPARED TO NORMAL SUBJECTS
Chronopoulou P1, Yapijakis C1, Karadimas C1, Panas M1, Manta P1, Cariolou M2, Vassilopoulos D1
*Corresponding Author: Christos Yapijakis, D.M.D., M.S., Ph.D., Clinical and Molecular Neurogenetics Unit, Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens 11528, Greece; Tel: +30-10-728-9125; Fax: +30-1-881-1243; E-mail: cyapijakis_ua_gr.yahoo.com
page: 29

REFERENCES

1. Harper PS. Myotonic Dystrophy (second edition). W.B. Saunders Company, Philadelphia, PA, USA, 1989.

2. Brook JD, McCurrach ME, Harley HG. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3-prime end of a transcript encoding a protein kinase family member. Cell 1992; 68: 799-808.

3. Fu Y-H, Pizzuti A, Fenwick RG, Jr. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992; 255: 1256-1258.

4. Carango P, Noble JE, Marks HG, Funanage VL. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics 1993; 18: 304-348.

5. Fu Y-H, Friedman DL, Richards S. et al. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 1993; 260 : 235-238.

6. Krahe R, Ashizawz T, Abbruzzese C. et al. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics 1995; 28: 1-14.

7. Sabouri L, Mahadevan M, Narang M. et al. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nature Genet 1993; 4: 233-238.

8. Wang J, Pegoraro E, Menegezzo E. et al. Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet 1995; 4: 599-606.

9. Yapijakis C, Cariolou M, Chronopoulou P. et al. Detection of the (CTG)n expansion in Greek patients with myotonic dystrophy at the DNA and the mRNA level. Med Genetik 1995; Abstract 2: 153 (A-37).

10. Depardon F, Cisneros B, Alonso-Vilatela E, Montanez C. Myotonic dystrophy protein kinase (DMPK) gene expression in lymphocytes of patients with myotonic dystrophy. Arch Med Res 2001; 32 (2): 123-128.

11. Erikkson M, Hedberg B, Carey N, Ansved T. Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers. Biochem Biophys Res Commun 2001; 286 (5): 1177-1182.

12. Otten AC, Tapscot SJ. Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proc Natl Acad Sci USA 1995; 92: 5465-5469.

13. Wang J, Sorour A, Seongman K. et al. Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science 1994; 265: 669-671.

14. Takahashi N, Sasagawa N, Suzuki K, Ishiura S. The CUG-binding protein binds specifically to UG dinucleotide repeats in a yeast three-hybrid system. Biochem Biophys Res Commun 2000; 277 (2): 518-523.

15. Fardaei M, Larkin K, Brook JD, Hamshere MG. In vivo co-localization of MBNL protein with DMPK expanded repeat transcripts. Nucleic Acids Res 2001; 29 (13): 2766-2771.

16. Boucher CA, King SK, Carey N. et al. A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum Mol Genet 1995; 4: 1918-1925.

17. Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987; 162: 156-159.

18. Frisch R, Singleton KR, Moses PA, et al. Effect of triplet repeat expansion on chromatin structure and expres­sion of DMPK and neighboring genes SIX5 and DMWD in myotonic dystrophy. Mol Genet Metab 2001; 74 (1-2); 281-291.

19. Taneja KL, McKurrach M, Housman D, Singer RH. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 1995; 128: 995-1002.

20. Klesert TR, Otten AD, Bird TD, Tapscott SJ. Trinucleotide repeat expansion at myotonic dystrophy locus reduces expression of DMAHP. Nature Genet 1997; 16: 402-406.

21. Thornton C, Wyner JP, Simmons Z. et al. Expansion of  the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nature Genet 1997; 16: 407-409.

22. Hamshere MG, Newman EE, Alwazzan M, Athwal BS, Brook JD. Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Proc Natl Acad Sci USA 1997; 94: 7394-7399.

23. Jansen G, Groenen PJTA, Bachner D. et al. Abnor­mal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nature Genet 1996; 13: 316-322.

24. Reddy S, Smith D, Rich M. et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nature Genet 1996; 13 (3): 325-335.

25. Moxley R. Proximal myotonic myopathy: mini- review of a recently deineated clinical disorder. Neuromusc Disord 1996; 6: 87-93.

26. Ricker K, Koch M, Lehmann-Horn F. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994; 44: 1448-1452.

27. Ricker K, Koch M, Lehmann-Horn F. Proximal myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995; 52: 25-31.

28. Ueda H, Ohno S, Kobayashi T. Myotonic dystrophy and myotonic dystrophy protein kinase. Prog Histochem Cytochem 2000; 35 (3): 187-251.

29. Larkin K, Fardaei M. Myotonic dystrophy-a multi­gene disorder. Brain Res Bull 2001; 56 (3-4): 389-395.

30. Korade-Mirnics Z, Babitzke P, Hoffman E. Myo­tonic dystrophy: molecular windows on a complex etiology. Nucleic Acids Res 1998; 26 (6), 1363-1368.

31. Jansen G, Bachner D, Coerwinkel M, Wormskamp N, Hameister H, Wieringa B. Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus. Hum Molec Genet 1995; 4: 843-852.



Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006