[Association of [Ile462Val in genetic polymorphisms CYP1A1] and uterine leiomyoma risk in women in Charmahal va Bakhtiari, I.R. Iran]

Uterine leiomyoma is a benign solid tumor of smooth muscle and the most common type of gynecological tumor. It occurs in approximately 25-30% of women over 30 years old. Studies have shown that the growth of uterine leiomyma was related to estrogen, cousidering the effect of CYP1A1 gene in estrogen metabolism, this study was done to evaluate the association of CYP1A1 [Ile462Val] polymorphisms with uterine leiomyoma in Charmahal va Bakhtiari women. In this case - control study, 156 non menopause women with the age ranges of 17-57, with clinically diagnosed uterine leiomyoma and 151 healthy normal subjects were investigated. The Ile462Val [AG] Polymorphism between the two groups [P=0.306]. The results of this study demonstrated that the CYP1A1Ile462Val polymorphism was not correlated with an increased risk of uterine leiomyoma in the study population

[Purslane [Portulaca oleracea] effects on serum paraoxanase-1 activity]

Background and aim: Purslane [Khurfeh] is one of the richest sources of omega3 fatty acids in plants and it has many antioxidants and minerals in its different parts. High density lipoprotein [HDL] has antioxidant effects because of Paraoxanase-1 [PON1] enzyme which attaches to HDL particles and circulates with it in blood. PON1 is responsible for hydrolysis of oxidized phospholipids. The aims of this study were investigating the Purslane effects on Paraoxanase-1 activity and lipoproteins levels, especially oxidized low density lipoprotein [OxLDL] and to compare these effects with Lovastatin

Methods: Fasting venous blood samples were obtained from patients who were referred to an internal clinic with LDL-C more than 100 mg/dl. Five ml of blood was taken before and 45 days after taking Purslane or Lovastatin. Subsequently the levels of all variables in the samples were measured using standard methods. Results were analyzed using paired t-test and t-test

Results: There was a significant decrease in serum level of cholesterol, LDL-C and OxLDL in two groups after receiving Purslane or Lovastatin [P<0.05]. ApoB was decreased only after taking Lovastatin. PON1 arylesterase activity was increased only in Purslane group following increasing of Apo A1 and HDL-C. Body mass index [BMI] and triglyceride was decreased in Purslane group [P<0.05]

Conclusion: Purslane reduces some cardiovascular risk factors through decreasing OxLDL, LDL-C, total cholesterol and triglyceride levels and increasing activity of paraoxanase-1 enzyme and HDL-C concentration. In addition, Purslane can increase ApoA1 better than Lovastatin

[Study of Cumin [Cuminum cyminum] extract effects on serum paraoxonase-1 activity]

Cumin [Cuminum Cyminum] has antioxidant property, therefore it may be able to reduce the lipid oxidation levels. Paraoxonase-1 [PON1] is exclusively associated with HDL. PON1 can hydrolyze oxidized phospholipids formed during lipoprotein peroxidation and plays a protective role against the oxidative modification of plasma lipoproteins. The aim of this study was to investigate the Cumin effects on plasma lipoproteins and paraoxonase-1 activity. In this clinical trial study, 92 adult patients with LDL-C greater than 120mg/dL divided into two groups of Cumin and lovastatin. There was no significant difference in demographic characteristics between two groups. Before and after treatment with Cumin and lovastatin, lipid profile and paraoxonase activity were measured in all subjects and data were analyzed by paired t-test using SPSS software. Cumin reduced levels of glucose and ox-LDL, but it increased aryl esterase activity of PON1.There was no significant relationship between Cumin and other lipid profiles in this study. Cumin increased PON1 activity better than lovastatin, therefore it can be used as a supplement in lovastatin therapy. Cumin and lovastatin probably have better effect to reduce ox-LDL levels if they be used together

[Study of LDL receptor gene mutations in patients with familial hypercholesterolemia in Chaharmahal va Bakhtiari province]

Familial hypercholesterolemia is an autosomal dominant inherited disorder, characterized by increased level of low-density lipoprotein cholesterol and lipid accumulation in tendons and arteries. It can cause premature atherosclerosis and increased risk of coronary heart disease [CHD]. Familial hypercholesterolemia is caused mainly by mutations in low-density lipoprotein receptor [LDLR] gene. The aim of this study was to analyze the LDLR gene mutations in a group of patients from Chaharmahal va Bakhtiari province. In this descriptive-lab based study, 57 suspected FH patients were screened for mutations in promoter and exons 1,3,5,11,13,15,16,17 and 18 of LDLR gene using PCR-SSCP strategy. Two different LDLR gene variations, including heterozygote mutation 283T>A and polymorphism 1959T>C, were identified in 1 and 9 FH Families studied, respectively. We conclude that LDLR gene mutation may not be the major cause of FH in the population studied and the cause of FH in Chaharmahal va Bakhtiari province remains to be detected in other loci or genes

[DFNB59 gene mutations screening in non syndromic deaf subjects in Chaharmahal va Bakhtiari province]

The incidence of pre-lingual deafness is about 1 in 1000 neonates from which more than 60% of cases are inherited. Deafness is a heterogeneous disorder and may be due to genetic or environmental cause or both. Mutations in the DFNB59 gene encoding pejvakin protein has been very recently shown to cause neural deafness. In the present study, we have conducted type and frequency of the DFNB59 gene mutations in a cohort of 100 non syndromic deaf subjects in Chaharmahal va Bakhtiari province. In this descriptive-lab based study we investigated the frequency of DFNB59 gene mutations in the entire coding exons of the gene. DNA was extracted from the peripheral blood samples following the standard phenol chloroform procedure. DFNB59 gene mutations were investigated using PCR-SSCP/ Heteroduplex Analysis [HA]. The results of PCRSSCP/HA were confirmed by sequencing of exon 7, nested PCR and PCR-RFLP of 3 known DFNB59 mutations. Altogether 3 different gene polymorphisms [793C>G, 793C>T and 874G>A] and one mutation [988delG] were detected in 7, 5, 2 and 1 subjects respectively. Based on our data from the present study and previous study, we conclude that DFNB59 gene mutations have a very low contribution to deafness in patients in Chaharmahal va Bakhtiari province and are not of great clinical importance in this region

[Study of-629C/A polymorphism of cholesteryl ester transfer protein gene in statin effects on plasma high density lipoprotein cholesterol level]

Cholesteryl ester transfer protein [CETP] plays pivotal role in HDL metabolism and in reverse cholesterol transport [RCT] pathway. CETP gene variants such as-629C/A that affect HDL cholesterol directly, modulates CETP gene transcriptional activity. This study was aimed to determine influence of-629C/A polymorphism of CETP in statin effects with regard to plasma HDL cholesterol levels. In this descriptive-analytical study, 196 adult patients with LDL-C more than 120mg/dL were divided into two groups base on lovastatin and atorvastatin using. Lipid profile was measured in all subjects before and after treatment and-629C/A polymorphism of CETP promoter was studied using polymerase chain reaction/restriction fragment length polymorphism method. Data were compared with paired t-test and ANOVA in SPSS software. Cholesterol was decreased and HDL was increased in AA genotype more than other genotypes by lovastatin, but ApoA1 was increased in CC genotype. ApoA1 also was increased in CC genotype more than AA or AC genotypes by atorvastatin. In CC genotype, lovastatin and specially atorvastatin increased ApoA1 in HDL particles more than other genotypes. Therefore, treatment with lovastatin and atorvastatin is more effective in patients with CC genotype for raising HDL particles activity

[Investigation on two polymorphisms effective on HDL-C concentration in patients with coronary artery disease using restriction fragment length polymorphism]

High density lipoprotein cholesterol [HDL-C] is a known inverse predictor of coronary heart disease [CHD]. Cholesteryl ester transfer protein [CETP] and hepatic lipase [HL] are key proteins in HDL-C metabolism so that decreased CETP or HL activity is associated with high HDL-C. -629C/A polymorphism in promoter of CETP gene and-514C/T in promoter of HL gene were previously reported to reduce related protein level in plasma. In this study association of these polymorphisms with CHD related to HDL-C level were investigated. In this analytical-descriptive study 321 subjects underwent coronary angiography and divided in two groups base on angiogram [non CAD = 135 and CAD = 186]. Serum lipids profile was measured by standard procedure and genotype was detected using PCR-RFLP method. Overall the CETP genotype frequencies were in CAD patients: 58.8% [n=110], 28.9% [n=54] and 12.3% [n=23] and in non CAD patients: 45.2% [n=61], 41.5% [n=56] and 13.3% [n=18] for AA, CA and CC respectively. HL genotype frequencies were in CAD patients: 61.6% [n=114], 33.5% [n=62] and 4.9% [n=9] and in non CAD patients: 65.9% [n=89], 27.4% [n=37] and 6.7% [n=9] for CC, CT and TT respectively. In control group HDL-C concentration was higher for AA than CC genotype in -629C/A, and also for TT than CC genotype in -514C/T. Allele A in all subjects and T allele in woman were higher in CAD than non CAD group. A high increase in HDL-C level [10. mg/dl] was observed in individuals with CETP-AA/LIPC-TT and CETP-CA/LIPC-TT relative to CETP-CC/LIPC-CC across all subjects [P< 0.001] but there was no difference in CAD prevalence. Allele A from -629C/A, and T from -514C/T even with the increasing of HDL-C concentration had higher frequency in CAD than non CAD group. Therefore, it seems that HDL-C didn't protect coronary artery when CETP or HL activity was reduced by these polymorphisms