-514C/T polymorphism of hepatic lipase gene among Iranian patients with Coronary Heart disease

The T allele of the hepatic lipase [HL] C-514T polymorphism was previously found to be associated with lower plasma HL activity. Here, we examined the association between this polymorphism and plasma HDL-cholesterol concentrations in patients with coronary arteries stenosis. We studied 342 subjects undergoing coronary angiography in two groups of non CAD [n=146] and CAD [n=196]. -514C->T polymorphism was determined using polymerase chain reaction and restriction fragment length polymorphism [PCR-RFLP]. After adjustment for age, smoking and body mass index, HDL-cholesterol concentrations were significantly higher in men with the C/T and T/T genotype than those with the C/C genotype [mean 38.6 and 34.7 respectively P=0.01]. The frequency of T allele in non CAD was 0.136 and 0.226 in female and male respectively and 0.170 and 0.223 for female and male in CAD subjects. There was no difference in T allele frequency in CAD and none CAD groups in male and female [P=0.466 and 0.722 respectively]. -514C-"T of LIPC gene have a positive effect on HDL-C concentration especially in male gender. However, no difference was determined in frequency of T allele between CAD and normal arteries subjects

[Frequency of thrombophilia gene polymorphisms: factor V Leiden, prothrombin G20210A, methylenetetrahydrofolate-reductase and platelet PLA2 antigen in Shahrekord]

Inherited thrombophilic gene polymorphisms have been related to the pathogenesis of venous thromboembolism and its outcomes. Considering the scarcity of data on the frequency of the thrombophilic gene polymorphisms in Iranian populations, the aim of this study was to assess such polymorphisms in healthy individuals. This cross-sectional study was performed on 304 healthy blood donors with no history of venous thromboembolism in Shahrekord. Venous blood was collected in EDTA-treated tubes and then, genotyping of the factor V Leiden, prothrombin G20210A, MTHFR C677T and PLA2 polymorphisms was done using PCR - RFLP. Six [1.97%] cases were heterozygous for factor V Leiden and one was homozygous. Ninty-four [30.92%] and 11 [3.62%] subjects were heterozygous and homozygous for MTHFR C677T, respectively. Two [0.6%] cases were heterozygous for prothrombin G20210A and there was no homozygous case. Twenty-eight [9.2%] and 2 [0.6%] cases were heterozygous and homozygous for PLA2, respectively. In addition, 44.6% of the study population and 14.5%, with the deletion of MTHFR C677T, carried at least one thrombophilia polymorphism. The frequency of thrombophilia polymorphisms is different from the previously published data in Caucasians and also the limited existing data in Kermanshah [Iran]. Moreover, the discrepancies may be associated with the ethnic differences and sample selection

[Study of three common mitochondrial mutations in Arab patients with nonsyndromic hearing loss in Khuzestan province, I.R.Iran]

Hearing Impairment [HI] is the most prevalent neurosensory disorder occurs in 1/1000 newborn. The majority of hearing deficiencies are of genetic origin. About%0-2 of the genetic HI cases are due to mutations in mitochondrial genes. In the present study we investigated the frequency of 3 mtDNA A1555G, A3243G and A7445G mutation of 62 patients with nonsyndromic hearing loss in Khuzestan province. In this descriptive study, we investigated the presence of three mitochondrial mutations; A1555G, A3243G and A7445G in 62 Arab subjects with autosomal recessive non syndromic hearing loss in Khuzestan province. DNA was extracted using standard phenol -chloroform method. The screening of the mitochondrial gene mutations was performed by PCR-RFLP procedure.The possible mutations were confirmed by direct sequencing. None of the investigated mutations; A1555G, A3243G and A7445G were detected in this study. However PCR-RFLP revealed two mutations; G3316A, A7445C in 2 deaf subjects studied. This study is shown that mtDNA mutations consist of G3316A and A7445C are responsible for few of ARNSHL in sample studied and none of the A1555G, A3243G and A7445G mutations are responsible for ARNSHL in this population. The data presented here will improve the genetic counseling of hearing impaired patients in Khuzestan province

[Study of I405V polymorphism of cholesterol ester transfer protein gene in efficacy of statins on plasma level of high density lipoprotein cholesterol]

Cholesterol ester transfer protein [CETP] plays a pivotal role in high density lipoprotein [HDL] metabolism and reverse cholesterol transport [RCT] pathway. CETP gene variants such as I405V that affect HDL cholesterol directly modulate CETP gene transcriptional activity. This study aims to determine influence of I405V 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 120 mg/dL were divided into two groups based on the lovastatin and atorvastatin using. There was no significant difference in demographic characteristics between two groups. Lipid profile was measured in all subjects before and after treatment and I405V polymorphism of CETP promoter was studied using polymerase chain reaction/restriction fragment length polymorphism method [PCR-RFLP]. Data were compared using paired t-test and ANOVA. Cholesterol was decreased and HDL was increased in VV genotype more than other genotypes by lovastatin and atorvastatin [P<0.05] but ApoA1 was increased in II genotype. ApoA1 also was increased in IV by atorvastatin despite of lower HDL. Lovastatin and specially atorvastatin increased ApoA1 in HDL particles in II genotype more than other genotypes. Therefore, treatment with lovastatin and atorvastatin is more effective in patients with II genotype for preventing of CAD

[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

Genetic linkage analysis of 15 DFNB loci in a group of Iranian families with autosomal recessive hearing loss

Hearing loss [HL] is the most frequent sensory birth defect in humans. Autosomal recessive non-syndromic HL [ARNSHL] is the most common type of hereditary HL. It is extremely heterogeneous and over 70 loci [known as DFNB] have been identified. This study was launched to determine the relative contribution of more frequent loci in a cohort of ARNSHL families. Thirty-seven Iranian families including 36 ARNSHL families and 1 family with Pendred syndrome each with >/= 4 affected individuals, from seven provinces of Iran, were ascertained. DFNB1 contribution was initially studied by DNA sequencing of GJB2 and linkage analysis using the relative STR markers. The excluded families were then subjected to homozygosity mapping for fifteen ARNSHL loci. Sixteen families were found to be linked to seven different known loci, including DFNB1 [6 families], DFNB4 [3 families +1 family with Pendred syndrome], DFNB63 [2 families], DFNB2 [1 family], DFNB7/11 [1 family], DFNB9 [1 family] and DFNB21 [1 family]. DNA sequencing of the corresponding genes is in progress to identify the pathogenic mutations. The genetic causes were clarified in 43.2% of the studied families, giving an overview of the causes of ARNSHL in Iran. DFNB4 is ranked second after DFNB1 in the studied cohort. More genetic and epigenetic investigations will have to be done to reveal the causes in the remaining families

[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-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

[Mutation screening of GJB2 and GJB6 and genetic linkage study of three prevalent DFNB loci in Iranian families with autosomal recessive non-syndromic hearing loss]

The incidence of prelingual hearing loss [HL] is about 1 in 1000 neonates of which, more than 60% of cases are inherited. Non-syndromic HL [NSHL] is extremely heterogeneous: more than 100 loci have been identified. The most common form of NSHL is the autosomal recessive form [ARNSHL]. Here, we have investigated CX26 [GJB2] and CX30 [GJB6] gene mutation and linkage analysis of 3 known loci in Iranian families. A cohort of 36 big ARNSHL pedigrees from 7 provinces of Iran was investigated. All of the families were examined for the presence of GJB2 and GJB6 [del D13S1830 and del D13S1854] mutations using direct sequencing and multiplex PCR, respectively. The negative mutations pedigrees for the above-mentioned mutations, were then tested for the linkage to the 3 known loci, including DFNB3[MYO7A], DFNB4[SLC26A4] and DFNB7/11[TMC1], using STR markers and conventional PCR and PAGE. Six families had GJB2 mutations. No GJB6 mutation was found. Totally, 3 families showed linkage to DFNB4 and 1 family was linked to DFNB7/11. DFNB1 [GJB2] and DFNB4 are the main causes of ARNSHL in our study samples and GJB6 mutations are apparently absent in the Iranian population

[Effect of medicinal smokes on some nosocomial infection factors]

Bacterial resistance to antibiotics is a main problem in the treatment of infectious diseases. Thus, searching for alternative drug is essential in Iran and particularly Chaharmahal va bakhtiari province. People use medicinal smokes such as donkey dung and Peganum harmala seed smokes for treatment of infectious diseases. Therefore, this study was aimed to evaluate the antimicrobial property of donkey dung and Peganum harmala seed smokes on Staphylococcus aureus and Pseudomonas aeroginosa. In this interventional and laboratory study, groups of Peganum harmala seed smoke and donkey dung were considered as case groups and antibiotic disks as positive control group. Pseudomonas aeroginosa and Staphylococcus aureus were cultured in suitable medium [Blood Agar, EMB and Mueller-Hinton agar]. Antibiogram blank disks were fumigated separately with Peganum harmala seed and female donkey dung smoke then placed on microbial plate with sterile methods. Following 48 hours incubation at 37°C, the zone of growth inhibition evaluated by measuring the zone around the disks. Fumigation process was done in special chest that designed for this research. We repeated fumigation each 20 minutes for 24 times. Data about measuring the zone of growth inhibition were analyzed by using and mean statistic exam. Staphylococcus aureus was sensitive to Peganum harmala seed, and fdonkey dung smokes and Pseudomonas aeroginosa was sensitive to female donkey dung smoke. Staphylococcus aureus was resistant to cloxacilllin and Pseudomonas aeroginosa was sensitive only to erythromycin and ciprofloxacin. The increasing time of fumigation in sensitive cases enhanced antimicrobial effects and the zone of growth inhibition. Antimicrobial effects of donkey dung smokes on resistance pathogens such as Pseudomonas aeroginosa, Staphylococcus aureus revealed the necessity of performing expanded research about composition and property of this smoke

[DFNB59 gene mutations and its association with deafness in schoolchildren in kohgilooyeh and Boyerahmad province]

Hearing loss is a common disease affecting millions of people worldwide. Hearing loss can be caused due to genetic or environmental factors or even both. The genetic of hearing defect is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. A newly identified gene [DFNB59] has been shown to cause deafness in some populations. Here we report mutation analysis for DFNB59 gene in 88 genetic non-syndromic hearing loss subjects. In this descriptive-lab based study which was conducted at the Cellular and Molecular Research Center of Shahrekord University of Medical Sciences, DNA was extracted from the peripheral blood samples using standard phenol chloroform procedure. Mutation analysis for DFNB59 gene was performed using PCR-SSCP/HA protocol. The suspected DFNB59 which was detected as shifted bands on PAGE were then confirmed by direct sequencing strategy. Two DFNB59 polymorphisms including c.793C>G and c.793C>T were detected in 8 and 1 deaf subjects respectively. We conclude that there is no association between DFNB59 mutations and deafness in the studied patients in the region

[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

[Frequency of 35delG mutation in GJB2 gene in non-syndromic prelingual hearing loss in 3 provinces of Iran]

Hearing loss is the most common inherited sensory disorder. At least 50% of hearing loss is inherited and about half of the genetic hearing loss is autosomal recessive non-syndromic. Mutations in GJB2 gene is the most frequent cause of autosomal recessive non-syndromic hearing loss. A single 35delG mutation is the most common allelic variant of GJB2 in most parts of the world. The aim of this study was to determine the rate of 35delG mutation in non-syndromic prelingual hearing loss in 3 provinces of Iran. In this descriptive experimental study, 240 cases with autosomal recessive non-syndromic hearing loss in 3 provinces of Iran, including Azarbaijan Sharghi [97 cases], Chaharmahal va Bakhtiari [98 cases] and Gilan [45 cases] were screened for 35delG mutation in the GJB2 gene. Blood samples [5 ml] were taken for genomic DNA extraction. The mutation was screened using Nested-PCR method and the positive results were confirmed by subsequent direct sequencing. Results of this study showed that from 240 studied patients [480 chromosomes], 35delG mutation was found in 58 chromosomes [24 patients were homozygote and 10 patients were heterozygote]. The frequency of 35delG mutation was 12.08%, including 18.04% in Azarbaijan Sharghi, 3.06% in Chaharmahal va Bakhtiari and 18.88% in Gilan province. Prevalence of 35delG mutation in Chaharmahal va Bakhtiari population was lower than other provinces studied. These results indicate that the other genes or mutations could result in autosomal recessive non-syndromic hearing loss in Chaharmahal va Bakhtiari population. However, as we found a low rate of 35delG in the populations studied, the cause of deafness 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

[Molecular investigation of mtDNA A1555G, A3243G and A7445G mutations among the non syndromic hearing loss cases in Fars, Iran]

Hearing loss is a sensorineural disorder occuring in 1 out of 500 births. It happens due to some genetic/environmental causes or both. More than 60% of cases are noninherited and 80% non syndromic with autosomal recessive inheritance. In the present study we investigated the frequency of mtDNA A1555G, A3243 and A7445G mutations among the patients in Fars province. Seventy two non syndromic hearing loss subjects were studied. DNA was extracted using standard phenol-chloroform method. The screening of the mitochondrial gene mutations were performed using PCR-RFLP procedure. Finally, the possible mutations were confirmed by direct sequencing. None of the A1555G, A3243G and A7445G mutations was detected in this study. However, destroying a MTTL1 restriction site for the investigation of A3243G mutation, revealed a G3316A with allelic variant of 1.4% in the deaf subjects. Our data indicated that the mitochondrial A1555G, A3243 and A7445G mutations have no role in auditory deficits in patients studied

Detection of mutations in exons 5-8 of the P53 gene in gastric cancer samples using PCR-SSCP in Chaharmahal va Bakhtiari province, 2006-2007

Gastric cancer is the second cause of cancer death world wide. Genetic factors including oncogens and tumor suppressor genes are always contributed in progression of this cancer. The P53 tumor suppressor gene has a broad role in the cell such as programmed cell death and stop cell replicating damaged DNA. Mutations in the P53 gene, which are frequently seen in human gastric cancer, impair its tumor suppression function. The aim of this study was to determine the P53 gene mutations in gastric cancer specimens in Chaharmahal va Bakhtiari Province. In this descriptive-lab based study, we investigated the P53 gene mutations in exons 5-8 in 38 paraffin embedded gastric cancer specimens. DNA was extracted following the standard phenol chloroform protocol. The P53 gene mutations were determined using PCR-SSCP procedure. Band shifts were detected in all positive controls examined. However, no shifted band was detected in samples from gastric cancer patients tested. The results of this study demonstrated that association between P53 gene mutations and gastric cancer is very low in Chaharmahal va Bakhtiari province. However, we have examined a limited number of 38 gastric samples and more samples are needed to be investigated to unravel the contribution of P53 gene mutations leading to gastric cancer in this province

frequency of hearing loss etiology among deaf students in Chaharmahal va Bakhtiari province, Iran, 2008-2009

Hearing loss is the most common sensory disorder in human and has a profound economic and social impact in the modern world. The etiology of deafness can be due to genetic or non-genetic causes in origin. Genetics etiology of hearing loss is classified into syndromic and nonsyndromic. The aim of this study was to determine the etiology of deafness in deaf students in Chaharmahal va Bakhtiari province, Iran. Altogether, 265 patients with mild to profound hearing loss were contributed in this descriptive study. The subjects were deaf pupils from the schools of Chaharmahal va Bakhtiari province. Age of the students was between 6 and 22 years. Medical history, pedigree information and demographic data were collected using a questionnaire. Each patient underwent general and otoscopic examinations and also pure-tone audiometery. Otoacoustic emissions, as well as auditory brainstem response testing were performed in patients suspected to neural hearing loss. Consanguineous marriages were detected in 67.2% of deaf families, from which first cousins marriage was the most common with the rate of 78.1% of overall consanguinity. Our study revealed that up to 98.8% of genetic deafness cases were in autosomal recessive mode. We found sensorineural hearing loss as a predominant type of deafness in 97.8% of the population studied. Moreover, hearing loss with genetic in origin was found as the most frequent deafness etiology with a rate of 60.8% and then acquired and idiopathic hearing loss are in next step, respectively. We found syndromic etiology in 4.2% of the students and ophthalmic problems were the most dysfunction accompanied with hearing loss. This data highlight the importance of consanguine marriage in the studied population. We found a very high rate [67.2%] of consanguine marriage, which can be the main cause of congenital deafness