Indicators of a apoptosis in Duchene muscular dystrophy patients

Abstract EN

Background : tissue sections of dystrophic muscle demonstrate apoptotic my nuclei 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 trans membrane 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 vsl0 ± 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.