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Egyptian Journal of Medical Human Genetics

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Indicators of Apoptosis in Duchenne Muscular Dystrophy Patients

E Abdel-Salam, L Mansour, I Abdel-Meguid, S Korraa

Abstract




Background: Tissue sections of dystrophic muscle demonstrate apoptotic
myonuclei in degenerating muscle fibers of Duchene muscle dystrophy (DMD) patients. The apoptosis cascade can be triggered by 2 main pathways, via an intrinsic, endogenous system such as the mitochondrial Bax/Bcl-2 or via an extrinsic system involving transmembrane receptors of the death receptor family Fas and Fas Ligand (FasL).
Aim of the Work: The present study is an attempt to demonstrate the levels of Fas and FasL and Bax/Bcl-2 in DMD pathogenesis.
Patient and Methods: Subjects were 16 boys with DMD diagnosed clinically and at the molecular level versus 20 age and socioeconomic matching healthy boys.
Results: Plasma DNA fragmentation (0.38%±0.12 vs. 0.2%±.0.1.5) and Fas (9.9±2.8 vs. 2±0.1, p<0.001) together with FasL mRNA expression in circulating lymphocytes (0.47±.09 vs. 0.24±.04, p<0.001) were significantly increased in DMD patients compared to controls. There was a significant increase in Bax mRNA relative concentration (0.19±0.07 vs. 0.05±0.01, p<0.00001) accompanied by a significant decrease in Bcl-2 protein in circulating
lymphocytes (6.4±1.6 vs10±2.8, p<0.00001) both compared to controls.
Conclusion: Indicate that apoptosis and its markers determined in blood of
DMD patients can replace the invasive technique of tissue biopsy.

Keywords: Duchenne muscular Dystrophy, apoptosis, Bax, Bcl-2, Fas, FasL

Egypt. J. Hum. Genet Vol. 9 (1) 2008: pp. 41-50



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