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

INTRODUCTION

Myotonic dystrophy (DM) is an autosomal dominant disorder, characterized mainly by myotonia and progressive muscle weakness, although central nervous system, cardiovascular and ocular manifestations also occur fre­quently [1]. The disease results from expansions of an unstable (CTG)n repeat, located in the 3' untranslated region (3'UTR) of the DM protein kinase (DMPK) gene on chromosome 19q13.3 [2,3]. Although the DM mutation was identified a decade ago, the pathogenic mechanisms underlying this neuromuscular disease remain elusive. Previous expression studies of the DMPK gene show con­tradictory results, indicating both increase and decrease of mRNA levels in DM patients compared to normal controls [4-11]. This may be due to different experimental ap­proaches. On the other hand, there is in vitro evidence that supports a nucleosome stabilization effect of the elongated trinucleotide repeat [12-15]. In turn, this may affect the expression of a number of genes, such as the 3' flanking DM adjacent homeobox protein (DMAHP) gene, which is expressed in myoblasts, muscle, brain, testes and other tissues often affected in DM patients [16].

In order to simultaneously monitor the effect of the (CTG)n expansion on transcription of the DMPK and DMAHP genes, we performed quantitative expression studies of both genes [using reverse transcription-polymerase chain reaction (RT-PCR)] in muscle biopsies and blood samples of DM patients and control subjects.




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