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Indicators of apoptosis in Duchenne muscular dystrophy patients
Egyptian Journal of Medical Human Genetics [The]. 2008; 9 (1): 41-50
in English | IMEMR | ID: emr-86372
ABSTRACT
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]. The present study is an attempt to demonstrate the levels of Fas and FasL and Bax/Bcl-2 in DMD pathogenesis. Subjects were 16 boys with DMD diagnosed clinically and at the molecular level versus 20 age and socioeconomic matching healthy boys. Plasma DNA fragmentation [0.38% +/- 0.12 vs. 0.2% +/- 0.15] 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 vs l0 +/- 2.8, p <0.0001] both compared to controls. Indicate that apoptosis and its markers determined in blood of DMD patients can replace the invasive technique of tissue biopsy
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Index: IMEMR (Eastern Mediterranean) Main subject: Apoptosis / Fas Receptor / Genes, bcl-2 / DNA Fragmentation Limits: Humans / Male Language: English Journal: Egypt. J. Med. Hum. Genet. Year: 2008

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Index: IMEMR (Eastern Mediterranean) Main subject: Apoptosis / Fas Receptor / Genes, bcl-2 / DNA Fragmentation Limits: Humans / Male Language: English Journal: Egypt. J. Med. Hum. Genet. Year: 2008