Serum Hepcidin Level and Human Factors Engineering (HFE) C282Y Mutation in Egyptian Children with Beta-Thalassemia | Author : Eman AE Badr1*, Mohamed Farag Ali Assar2, Mahmoud Ahmed El-Hawy3, Sara Rabea Ibrahim Saad El-dean2 and Ibrahim El Tantawy El Sayed4 | Abstract | Full Text | Abstract :Objective: Thalassemia is an important hematological disorder. The possibility of iron overload development may be increase by Interaction between thalassemia and HFE gene mutations. This study aim to investigate the possible association between serum hepcidin level as indicator of iron concentration and the presence of HFE gene mutations.
Methods: The study contains two groups, group I: include seventy six children with beta thalassemia, group II include 51 apparently healthy gender and age matched children served as controls. Children was passed through full history taking, clinical examination. Complete blood picture, iron, ferritin, hepcidin, renal and liver functions were measured. HFE gene C282Y mutation was assayed by SNP real time PCR.
Results: Frequency of the A genotype and A allele of HFE gene C282Y mutation shows a significant increase in beta thalassemia group in comparison controls. Also, serum Iron and ferritin levels were significantly increase with decrease in hepcidin level in AA when compared to AG and GG genotypes. The splenectomy percent was significantly increased among AA genotype in the patient group. The number and % of patients with ferritin level equal or more than 2500 ng/ml and decrease in hepcidin level as an index of iron overload was significantly increase in patients with AA and AG genotypes.
Conclusion: There were significant negative associations between serum hepcidin levels as indication of iron toxicity and HFE C282Y mutation in Egyptian Beta thalassemia children. |
| Molecular Characterization of Hydrogen Sulfide Role in Vascular System and Method of Endogenous Production Detections with Common Ion Channels Used to Produce Its Biological Effect | Author : Leta Melaku* and Andualem Mossie | Abstract | Full Text | Abstract :In addition to nitric oxide and carbon monoxide, hydrogen sulfide (H2S) is the third gasotransmitter in mammals. It is synthesized from L-cysteine by cystathionine ß-synthase, cystathionine ?-lyase or by sequential action of alanine aminotransferase and 3-mercaptopyruvate sulfur transferase. Although initially it was suggested that in the vascular wall H2S is synthesized only by smooth muscle cells and relaxes them by activating ATP-sensitive potassium channels, more recent studies indicate that H2S is synthesized in endothelial cells as well. The physiological functions of H2S are mediated by different molecular targets, such as different ion channels and signaling proteins. Endogenous H2S is involved in the regulation of many physiological processes in the cardiovascular system including the regulation of vascular tone, blood pressure and inhibits atherogenesis. Many new technologies have been developed to detect endogenous H2S production, and novel H2S-delivery compounds have been invented to aid therapeutic intervention of diseases related to abnormal H2S metabolism. The primary purpose of this review was to provide an overview of the role of H2S in the blood vessel, methods of endogenous production detections and common ion channels used to produce its biological effect describe its beneficial effects. |
| Soy Isoflavones (from Glycine max) in Menopause Health and Diseases | Author : Sankar P1,2, Zachariah Bobby1* and Anissa Atif Mirza2 | Abstract | Full Text | Abstract :As per the third consensus meeting of Indian Menopause Society reports, the number of postmenopausal women in India is approximately 43 million and it is projected to be 103 million by 2026. While the average age for menopause in India is 47.5 years, there is an alarming increase of premature menopause among the Indian women has been reported recently. It has been observed that, nearly four per cent women of age group of 29-34 years attain menopause and its incidence increases to eight per cent in women of age group between 35 and 39 years. The reason for this early menopause is still unclear, but it is a major public health problem because of its influence on the development of components of metabolic syndrome. Despite HRT improves postmenopausal complications, the prolonged use of HRT was not recommended now due to its influence on the development of certain types of cancers; endometrial cancer and breast cancer in addition to its negative impact on cardiovascular diseases. Hence, understanding the cellular and molecular mechanisms which amenable for the pathogenesis of postmenopausal complications may open new clinical therapeutic targets for the management of these complications. Soy isoflavones, a natural phytoestrogen, which shares the structural and functional homogeneity with estrogen. Several studies have reported that soy isoflavones have beneficial effects against ovariectomy (surgical menopause) as well as diet induced metabolic complications in animal models; however, its efficacy in terms of improving metabolic complications associated with postmenopausal state is largely unclear. |
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