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

Abstract

Myotonic dystrophy (DM) results from expansions of an unstable (CTG)n repeat, located in the 3' untranslated region (3'UTR) of the DM protein kinase (DMPK) gene, and possibly affecting expression of a number of contiguous genes. In order to simultaneously monitor the effect of the (CTG)n expansion on transcription of DMPK and the 3' flanking DM adjacent homeobox protein (DMAHP) gene, we performed quantitative expression studies of both genes in muscle biopsies and blood samples of 7 DM patients and 3 normal subjects. Relative gene expression monitoring, in samples of DM patients compared to controls, indicated increase of DMPK total mRNA in blood (about three-fold) and in muscle (about four-fold), and in conjunction, decrease of the DMAHP total RNA in blood (about three-fold) and in muscle (about two-fold). Conformational fragment length polymorphism (CFLP) analysis of DMAHP in DM patients revealed no nucleotide changes, excluding the possibility of existing mutation(s) in this gene, either in linkage disequilibrium with the (CTG)n expanded alleles or otherwise affecting the DM phenotype.

 

 Our findings support a possible effect of the (CTG)n expansion on the quantity of transcripts of both DMPK and DMAHP genes.

Key Words: Myotonic dystrophy (DM), gene expres­sion, trinucleotide repeats, conformational fragment length polymorphism (CFLP) analysis.




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