Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy

Mitochondrial respiratory chain disorders [RCD] are a group of genetically and clinically heterogeneous diseases, caused due to defects of the respiratory chain. This study aimed to investigate the presence of common mtDNA point mutations in tRNALeu [UUR], tRNALys, MT-ATPase 6, MT-ND4, MT-ND1, MT-ND6 genes in eight Egyptian patients suspected to have mtDNA disease and optic atrophy. PCR-RFLP analysis was done for the detection of 3243A > G, 327IT > C, 8344A > G, and 8993T > G/C mtDNA point mutations. DNA direct sequencing was pursued for the detection of 11778G > A, 3460G > A and 14484T > C mtDNA point mutations. No point mutation of 3243A > G, 327IT > C, 8344A > G, and 8993T > G/C was detected in our group of patients. Four mtDNA polymorphisms in MT-ND1 and MT-ND4 genes [11467A > G, 11719G > A, 3348A > G and 3357G > A] were detected in three patients. Mitochondrial disorders are caused by a variety of genetic and racial factors, which differ among populations. The negative results of this study indicate that the chosen mutations might not be specific in Egyptians. Another explanation might be due to the low heteroplasmic levels of the mtDNA mutation. A registry for the different mtDNA mutations in Egyptian patients is highly recommended

Cellular and humoral immune responses to recombinant Smp17.7 Schistosoma mansoni antigen

To determine the immunological responses to S. Mansoni antigen rSmp 17.7, a total of 184 subjects [174 patients from a schistosomiasis endemic area and 10 controls] was used. Proliferation, cytokine profile in culture supernatants from antigen-stimulated peripheral blood mononuclear cells and specific IgG1, IgG3, IgG4, IgA, IgM and IgE levels were assessed. The highest stimulation index to rSmp 17.7 was detected in S. mansoni patients. The evaluation of the cytokine profile [IL-2, IL-4 and IFN-gamma] in response to this antigen showed a significant increase as demonstrated by enzyme linked immunosorbent assay [ELISA]. Specifically, IFN-gamma and IL-2 were significantly detected by flow cytometry. IgG1 and IgM were significantly increased. These results highlighted the importance of rSmp 17.7 as a candidate vaccine for schistosomiasis. The results facilitate to understand the mechanism of schistosome vaccine efficacy