Ghrelin arg Arg5 1Gln polymorphism in Egyptian patients with type II diabetes mellitus

Ghrelin is a peptide hormone known to play a role in glucose homeostasis; therefore functional variants of the human ghrelin gene could contribute to the genetic susceptibility to diabetes or may modulate some aspects of the glucose intolerance phenotype. The study aimed at investigating the differences in the frequencies of Arg51Gln polymorphisms among Egyptian patients with type II diabetes and healthy control subjects and at verifying whether this polymorphism could influence the diabetes phenotype. One-hundred-four Egyptian type II diabetic patients attending the Medical Research Institute were enrolled into the study. Clinical data concerning medical and family history were collected by a clinical interview. Another group of 100 non-diabetic apparently healthy subjects were included to compare the Arg51Gln genotypes frequencies. The ghrelin Arg51Gln polymorphism was studied by PCR restriction fragment length polymorphism method in the diabetic and control subjects. The metabolic profile of the diabetic patients was also analyzed. A chi[2] test was adopted to compare the ghrelin Arg51Gln genotype and allele frequencies among the two groups. Moreover, in order to test whether the differences in phenotypic variables between the patient groups were influenced by ghrelin genotype, ANOVA test was performed. The frequency of the 51 gln heterozygotes and homozygotes were significantly higher in the patients group than in the control sample [chi[2] =8.962, P= 0.0113]. Also, the 51 Gln allele frequency was higher in the patients than in the control group [q=0.27 and q=0.14, respectively]; a difference that was found statistically significant [chi[2] =5.185, P = 0.022]. The fasting blood sugar and triglycerides levels were higher in patients carrying the ghrelin 51 Gln allele than in those with the wild allele [statistically significant, P=0.014 and p=0.004, respectively]. No statistically significant difference was observed between the total cholesterol, HDL and LDL cholesterol concentrations among these two groups. There is a significant positive association between ghrelin 51 Gln polymorphism and type II diabetes in the Egyptian population. Further studies are warranted to elucidate the role of ghrelin in the development of this disease

Diphosphoglycerate and phenotypic severity of sickle cell disease

Sickle cell disease is a hereditary blood disorder characterized by chronic manifestations of progressive organ failure. To control a disease of this type, it is important to study the factors which affect the course of the disease. Diphosphoglycerate [2, 3 DPG] is the most common metabolite generated by the glycolysis. It is a potent modifier for hemoglobin function. To clarify the role of 2, 3 DPG in sickling, its concentration was measured in 15 normal healthy individuals and in 12 sickle cell patients at steady state and during crisis. Hematological indices and partial oxygen tension [PO[2]] were also determined for sicklers and controls. Sickle cell patients during crisis were found to have a significantly higher levels of 2, 3 DPG [9.17 +/- 5.36 mmol/L] [p<0.05], and significantly low PO[2] [8.41 +/- 1.82 Kpa, p< 0.01] than controls [8.54 +/- 0.72 mmol/L for 2, 3 DPG and 12.44 +/- 0.7 Kpa for PO[4]]. The increase in 2, 3 DPG concentration during crisis may be due to its increased production via glycolysis, which in turn increased as a result of decreased oxygen tension during crisis. The increased 2, 3 DPG concentration increases and stabilizes the deoxygenated HbS leading to its precipitation, sickling, and hemolysis of red blood cells. In conclusion, the factors which can increase 2, 3 DPG or decrease PO[4] may lead to the sickling crisis and increase the phenotypic severity of the disease

Consanguinity and inbreeding coefficient among genetically determined disorders in Egypt

A study on 2788 cases with different disorders of genetic origin was done to establish the association between these disorders, consanguinity and inbreeding coefficient. Inbreeding coefficient in such a massive number of cases was estimated for the first time in Egypt, and the size of homozygosity in such different disorders was evaluated. Marked and significant high values of parental consanguinity and average inbreeding coefficient were obtained among the studied cases when compared to those of the control. This strongly confirmed that consanguinity had a determinant effect in transmission of recessive, intermediate and multifactorial traits. It also provided further support that there is a strong detrimental genetic element[s] which manifested or expressed phenotypically on homozygosity either directly through mutant gene transmission [as in recessive and intermediate traits] or indirectly through genetic predisposition [as in multifactorials]. The results were illustrated and discussed