PS11. APPROACHES IN MOLECULAR DIAGNOSTICS OF CANCER AND MUSCULAR DYSTROPHY IN ROMANIA
MARIETA COSTACHE Molecular Biology Centre, Department of Biochemistry, University of Bucharest, 91-95 Spl Independentei, Bucharest 5, 050095, phone/fax 0040213181575 e-mail: marietacostache@yahoo.com; costache@bio.bio.unibuc.ro
*Corresponding Author:
page: 20

Abstract

The main research directions in Molecular Biology Centre from University of Bucharest, Faculty of Biology are: Molecular diagnostic in cancer, Muscular Dystrophy, Cell Cultures/Apoptosis/Cell proliferation, aquatic ecotoxicology, taxonomy/phylogeny, molecular markers in human and animals

In Cancer research our main preoccupations are directed to patients with colorectal cancer. Our objectives are: i) macroscopic/ microscopic analyses of tumours and resection slides; ii) expression of MUC1, MUC2, p53, PLA2 type IIA and type V, APC and β-catenin in colorectal tumours by immunofluorescent analysis; iii) identification of AI/LOH at PLA2G2A and APC loci on human chromosome 1p and 5q; iv) to determine if AI/LOH in BRCA1 locus on chromosome 17q can be a prognostic factor in colorectal cancer.

Our studies have shown that in colorectal carcinoma: i) MUC2/ MUC1 expression was observed in malignant Goblet cells/ intraluminally within the glycocalix and in intracytoplasmic lamina; ii) coexpression of MUC1 with p53 and dual expression of MUC1 with MUC2 are associated with a higher frequency of lymph node metastasis; iii) sPLA2 type IIA is not expressed in the smooth muscle cells, but is present in the infiltrative cells from interstitial space; iii) sPLA2 type V is low expressed in infiltrative cells and has no expression in epithelial cells; iv)  APC is lower expressed in epithelial cells comparing with b-catenin expression;

Our data confirm that AI/LOH on the PLA2G2A and APC loci are frequent aberrations when compared with other microsatellites loci. We can suppose that correlations between these two genes could be significant and useful in diagnosis of colorectal cancer. The microsatellite markers that we used on chromosomes 1 and 5 can be useful for tumour stage diagnosis in colorectal cancer. For the future we decided to do dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification.

Concerning the muscular dystrophies studies we decided to create a model to evaluate sarcolemmal proteins expressions (dystrophin and calpain) by correlation of immunofluorescence and Western blotting results. Our objective was to improve the diagnosis of muscular dystrophies by specific identification of protein deficiency.

The association of the two techniques allowed us to demonstrate a variable dystrophin expression to the patients with DMD (Duchenne Muscular Dystrophy) or BMD (Becker Muscular Dystrophy) as well as a dystrophin of abnormal size or abundance in BMD patients. A correct diagnosis of patients with inherited muscle disorders is essential for the provision of accurate prognostic and genetic counselling. Our future step is to use multiplex ligation-dependent probe amplification kit (MLPA) to detect deletions/duplications of one or more exons of the DMD gene.



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