ABSTRACT
Objective: To use chorionic villi sampling [CVS] and amniocentesis to determine the genotyping of Gaucher Disease [GD] of fetuses of pregnant mothers who had a previous child affected by GD
Methods: The study was conducted between January 2009 and December 2012. It included 42 pregnant women that gave informed written consent. Thirty mothers presented early so they underwent CVS at 1012 weeks of pregnancy while 12 mothers presented later and underwent amniocentesis at 1416 weeks. Strip assay for the identification of Glucocerebrosidase [GBA] gene mutations in the samples of chrorionic villi and amniotic fluid was based on polymerase chain reaction [PCR] and reverse hybridization
Results: The age of the studied pregnant women ranged from 19 to 26 years. Consanguinitywas present in 38 cases. Eighteen women were pregnant in affected fetuses. The results of genotyping revealed 15 cases were homozygous L444P/L444P and one case homozygous [N370s/N370s] while two cases were heterogeneous [L444P/D409H]. Twenty-four pregnant women had carrier fetuses which were all heterozygous L444P
Conclusion: This study highlights the findings of an extended gene mutation examination for prenatal diagnosis of Guacher Disease. The study found out that the most common mutation was L444P/L444P
ABSTRACT
Recent evidences mount that homocysteine level significantly increased in epileptic patients particularly those taking anticonvulsant drugs. Several previous studies revealed that a 677C T transition in the methylenetetrahydrofolate reductase [MTHFR] gene is related to Hyperhomocysteinemia and might increase risk of vascular occlusive pathology. However other publications negate this relationship. This study aimed to determine the prevalence of hyperhomocysteinemia, [MTHFR] gene 677C [right arrow] T mutations and whether this mutation is related to elevated homocysteine concentrations in epileptic patients and to determine the possible relationship between clinical data with elevated Hcy levels and genetic mutations. Twenty five epileptic patients [13 males, 12 females], their mean age is 15.08 +/- 13.7 divided into two groups according to medications: Group 1: Newly diagnosed patients who did not receive medications yet. They were 16 patients, Group 2: Patients who received valproate. They were 9 patients. Fifteen healthy sex- and age-matched controls were recruited. After through neurological evaluation and EEG study, plasma total homocysteine [tHcy] level was determined by specific immunoassays [IMX, Abbott Laboratories]. MTHFR 677 C[right arrow]T mutation using a polymerase chain reaction [PCR] and restriction fragment length polymorphism analysis with HinfI digestion were investigated. The prevalence of hyperhomocysteinemia [>/= 11.4micromol/L, 90[th] percentile of control group] was significantly higher in the epileptic patients than in the controls [15 patients [60%] V one volunteer [6.6%] p<0.05]. The mean of homocysteine level was significantly higher in the epileptic patients than in the controls [10.23 +/- 5.9 V 5.35 +/- 1.64, p<0.05]. No significant correlation was found between clinical data [Age, sex, age of onset, seizure type, seizure frequency, duration and valproate medication] and homocysteine level. The homozygosity for the 677 C[right arrow]>T mutation of MTHFR was associated with elevated tHcy levels. The magnitude of hyperhomocysteinemia in MTHFR CT heterozygotes was more pronounced in epileptic patients than in controls [12.64 +/- 6.64 V 7.9 +/- 2.54 micromol/L, p<0.05]. Statistically significant differences is noticed between hetero mutant patients and patients with normal gene as regard mean homocysteine level [12.64 +/- 6.64 V 8.50 +/- 4.68 in p value <0.01]. The epileptic patients are at a higher risk of hyperhomocysteinemia. The C677T mutation in MTHFR gene contributes to hyperhomocysteinemia in epileptic patients. So measuring homocysteine in epileptic patients is recommended as early management of hyperhomocysteinemia help to avoid its devastating consequences