Catalase (CAT) plays a central role in the protection of different cell types against the deleterious effects of hydrogen peroxide. In human, CAT is implicated in many physiological and pathological conditions including idiopathic male infertility. In this study we examined the association between CAT levels in seminal plasma with different sperm parameters and with CAT-262 C/T polymorphism and their risk for idiopathic male infertility in Algeria. Semen and blood samples were obtained from 111 infertile males and 104 fertile controls from the region of Eastern Algeria following informed consent. Standard semen parameters, DNA integrity, and CAT concentration in seminal plasma were evaluated. CAT-262C/T genotypes were screened using allele specific PCR. Seminal CAT activity was significantly different (p<0.0001) between infertile males and controls, it was also markedly decreased in oligo-astheno-teratozoospermia (p<0.0001), azoospermia (p<0.0001), and normozoospermia (p=0.045) subgroups compared to controls. Positive correlations between CAT activity and semen parameters (volume, motility, concentration, and morphology) were detected, but not with sperm DNA integrity. There was no direct association between CAT-262C/T polymorphism and general male infertility. However, the results presented in this study showed that CAT activity is remarkably associated with the CAT-262T allele (p=0.001) and the different CAT-262C/T genotypes. This study highlighted the major differences in the seminal plasma CAT content between infertile and fertile males and the differences of CAT concentration between different CAT-262C/T genotypes carriers.
Abla Z, Mouloud Y, Hejer El, Emna G, Abdi Meriem A, Ouarhlent Yamina O, Naouel S. 2018. Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene. Biodiversitas 19: 52-58. Hemophilia B (HB) (also known as Christmas disease; Christmas is the family name of the first patient.) is an X linked recessive hemorrhagic disorder caused by mutations in factor 9 (F9: is used for the gene) gene that leads to deficient or defective coagulation factor IX (FIX: is used for the protein). The variable phenotype of HB results from wide range of mutations affecting the F9 gene. Our study was aimed at molecular analysis of HB to identify the causative mutation in known patients with HB in a part of Algeria. For genotyping, polymerase chain reaction (PCR) and direct sequencing have been applied to all the essential regions of the F9 gene from 39 Algerian HB patients belonging to 13 unrelated families. We identified 10 different mutations. The identified mutations included 1 duplication and 9 substitutions. In total 9 point mutations were identified, of which 5 are located in exon 8, the hotspot region in the F9 gene. Among the 10 mutations, 2 are novel and not deposited in database sites nor described in recently published articles. The results of this study emphasize the heterogeneity of HB. In summary, our preliminary results will be used to build an Algerian mutation database which would facilitate genetic counseling.
Capparis spinosa L. is an indigenous plant from Algeria but has widespread distribution in Mediterranean area. It is used in traditional medicine for the treatment of various diseases by the local populations. The purpose of this study is to test toxicity and analgesic effect of defatted methanol extract of fruits and roots bark of this plant in albino Wistar rats. To evaluate the acute toxicity, 500-5000 mg/kg body weight of each extract was administered orally to rats; symptoms of toxicity and mortality were observed for 72 h. The results revealed the absence of toxicity for both extracts. In subchronic toxicity, rats were treated, with doses of 100 and 200 mg/kg/day of each extract, they were surveyed for four weeks, no symptoms of toxicity were observed. These results were confirmed by the blood biochemical analyses and the histopathology study of liver and kidney. Peripheral analgesic activity was tested orally at the dose of 100 and 200 mg/kg for each extract against pain induced by acetic acid. The dose of 200 mg/kg of both extracts presented significant analgesic effect, compared to the positive control; the acetylsalicylic acid.
Hemophilia B is inherited as x-linked recessive disorder, carried by females, where males are affected. Rare cases of females affected with hemophilia B are known. This is also known as factor IX (FIX) deficiency, or "Christmas disease", originally named after Stephen Christmas; the first patient was described with this disease in 1952. It is characterized by spontaneous or prolonged hemorrages due to factor IX deficiency. Factor IX mutations have not been previously reported in Algerian patients. To understand the molecular basis of hemophilia B in Algeria, polymerase chain reaction (PCR) and direct sequencing have been applied to be the important regions of the factor IX gene from 11 patients; we identified 2 point mutations. Mutations identified in our patients was linked with disease severity. Complications are problems that develop during treatment of the disease. Inhibitor (alloantibodies to exogenous factor XI) development is currently the most significant treatment complication. In this study, we evaluated the relationship between inhibitor development and FIX gene mutation types. In summary, our preliminary results will be used to build an Algerian mutation database which would facilitate genetic counseling.
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