Advancements in Life Sciences (E-Journal, University of the Punjab)
Not a member yet
523 research outputs found
Sort by
Mutational analysis of CYP1B1 gene in Pakistani pediatric patients affected with Primary Congenital Glaucoma
Get PDFBackground: Glaucoma is the significant cause of blindness all over the world. Primary congenital glaucoma (PCG) reduces the vision and ultimately causes the blindness by damaging the aqueous drainage system of the eye. The purpose of the current study was to determine the pathogenic mutations in the CYP1B1 gene responsible for PCG.Methods: A total of thirty-five PCG patients were enrolled in this study. Blood samples were collected from the enrolled patients, and after DNA extraction and amplification, the coding regions of CYP1B1 were sequenced to determine the pathogenic mutations. In-silico analysis of the identified mutation was executed to study the effect of genetic variation on protein structure.Results: One mutation, c.1169 G>A has been revealed in exon 3 of the CYP1B1 gene leading to p.R390H, present in 20% of the patients enrolled. Besides, two missense sequence variants c.1294G>C (2 patients), c.1358A>G (4 patients) and a synonymous variant c.1347T>C (18 patients) has also been observed.Conclusion: Our study not only reaffirms the role of CYP1B1 mutations in PCG but also supports the use of genetic screening for molecular diagnosis and carrier identification, which will reduce the burden of disease on society. Furthermore, the in-silico analysis of the identified mutations provided an in-depth understanding of the PCG pathogenesis at the molecular level.Keywords: Primary congenital glaucoma; CYP1B1, mutation; Genetic variatio
Comparison of haemoglobin level between high altitude people and low altitude people
Get PDFBackground: Hemoglobin is the iron holding and oxygen carrying protein found inside the red blood cells. Studies have been done on Hb level variations in gender, race and region but no comparative study on different altitude effects in Pakistan is reported. Comparison of Hemoglobin level between people living at high altitude and low altitude was done in this study. Samples from district Skardu Gilgit-Baltistan, Pakistan were used as high-altitude samples and samples from district Lahore, Pakistan were utilized as low altitude samples. Samples were obtained from those people who don’t have any haemoglobinopathies.Methods: 50 blood samples were collected for this study; 25 individuals were from low altitude level and 25 of high-altitude level. Estimation of hemoglobin concentration was done by Cyanmethemoglobin method to compare the individuals HB from low altitude with high altitude.Results: All the blood samples were properly analyzed, and the results extracted from the samples, living at low altitude were compared with those living at high altitude. Mean and standard deviation values were calculated, and they found to be different for both populations, people at high altitude and the people living at low altitude. 25 residents of high altitude showed following results of hemoglobin: mean=15.0 and SD=0.632. On the other hand, 25 individuals of low altitude revealed these results: mean=14.53 and SD=0.633.Conclusion: There was a significant difference in Hb level in blood at high altitude (7500 feet) and low altitude (711 feet from sea level) P=0.004. Keywords: Hemoglobin, Standard Deviatio
Comparative analysis of leaf spot disease in Rice Belt of Punjab, Pakistan
Get PDFBackground: Brown leaf spot (BLS) caused by Bipolaris oryzae (Breda de Haan) Shoemaker, is a chronic disease of rice that infects millions of hectares worldwide each year. In this study, a total of 18 rice growing districts of Punjab, Pakistan were surveyed during cropping season in 2014-17 for the incidence of BLS disease. Methods: The survey method was used to gather the data of BLS incidence during 2014-2017 in 18 districts of rice growing areas of Punjab, Pakistan. Meteorological data was collected from the weather stations of each surveyed district and co-related with BLS incidence. Results: The findings of the study revealed that quantitative relationship exists between meteorological variables and BLS incidence. The incidence of disease in the field was at peak during the month of October. The disease incidence varied from 1.12% to 14.37% over a period of study i.e. from 2014-2017. However, the role of relative humidity (RH) was highly positively correlated with the incidence of disease. Relative humidity showed a positive correlation with the incidence of disease as indicated by the year in which it was towards the high values. The highest disease incidence was observed in district Sargodha whereas the minimum in district Okara. The highest incidence of BLS disease was found in variety Basmati Super (51.43%) and the minimum in Basmati 386 (6.57%). Conclusion: Our study revealed that the fluctuations in temperature did not depict an appreciable impact on the incidence of BLS as indicated by the statistical coefficient, whereas RH strongly influenced the incidence of BLS incidence.
A short report on epidemiological investigation of dog bite cases in association with temperature rise as a part of climate change
Get PDFBackground: Rabies is a neglected disease that claims more than 5000 human’s deaths in Pakistan that account for 10% global load of rabies related deaths annually. Dogs are major carriers for this zoonotic ailment in the country. Global climatic changes, especially rise in temperature, is altering ecological niche of reservoir of infectious diseases. Pakistan is among those countries which are most effected by the temperature rise. This rise has a relation in increase in dog bites and subsequent rabies cases to develop.Methods: Passive data of dog bite cases is acquired from Institute of Public health and were examined for 12 consecutive months. Data analyzed by SPSS software for frequency distribution of dog bite cases in comparison with different months of the year.Results: Data analysis indicate a positive correlation between temperature rise and dog bites rates. This study found prevalence of 2.56% dog bite cases and seasonality in dog bites.Conclusion: These finding recommend further study to investigate other factors involved in increase of dog bite cases in high temperature months of years. In order to develop understanding the reasons of subsequent rabies cases associated with dog bites. Bats are the most sensitive mammals to high temperature and they migrate and even dye due to hike in temperature, which later may become source of various zoonotic diseases including rabies. Carnivorous bats are believed to be primary reservoir for rabies worldwide but Pakistan do not have this bat specie (Desmodus rotundus). However, increase in dog bite and rabies cases with every year suggest to monitor Indian fruit bat (Pteropus giganteus) which are prevalent in Pakistan. Ecological Niche Model (ENM) should be used for bats to determine their role in rabies ecology in Pakistan.Keywords: Rabies; Dog bites; Climate shift; Disease ecology; Pteropus giganteu
Protein Engineering of Endoglucanase CelR of Clostridium thermocellum for Enhanced Expression
Get PDFBackground: Enhanced production and improved properties of cellulases for a greater activity on plant biomass would rank amongst the top priorities for second-generation ethanol production. Based on the emergence of protein engineering as a cutting-edge technology for enhancing enzyme activity and expression level, the present study is aimed at the application of this technique to the major cellulosomal processing endoglucanase of C. thermocellum, CelR for refining enzyme characteristics. Methods: The full-length native enzyme gene (CelR) and a truncated version without the docking domains at C-terminus (CelR-CB) were PCR amplified using gene specific primers. The amplified PCR products were T/A cloned in the vector pTZ57 R/T and transformed in E. coli DH5α. The cellulase genes from the confirmed transformed plasmids were sub-cloned in T7 promoter-based expression vector pET-28a and expression analysis was done in E. coli (DE3) BL21 codon Plus. Results: An SDS PAGE analysis of both the CelR derivatives revealed that the truncated version i.e. CelR-CB showed a two-fold increase in expression level as compared to the full-length enzyme. Conclusion: The increased expression level of CelR in E. coli coupled with its increased production therefore makes it a promising method for augmenting the recombinant enzyme production for potential applications.
Genotypic and computational sequence analysis of ALADIN gene causing Allgrove syndrome
Get PDFBackground: Allgrove syndrome is autosomal recessive disorder, the gene involved in this syndrome is known as ALADIN located close to type 2 keratin gene cluster on chromosome 12q13 whose function is to control the nucleocytoplasmic trafficking and also affects the nuclear pore complexes. Mutation in this gene cause triple A syndrome. The aim of research was to analyze the mutational changes in ALADIN gene, formation of 3D Structure of normal and mutated protein and differentiation of normal and mutated protein.Methods: Genotyping by using tetra arm PCR and Sequence analyses of coding region of ALADIN gene was done in two families having affected children with Allgrove’s syndrome.Results: Point mutation in exon 1 and alteration in 3D structure of protein was observed by using VMD (Visual molecular dynamics) that shows truncation, absence of few amino acid and structural modification of proteins which alters in transportation ability.Conclusion: It is concluded from the study that proper structure and function of NPC (nuclear pore complex) binding protein is necessary in normal body function and if any mutation is present in ALADIN gene it can cause symptoms of rare Allgrove’s syndrome.Keywords: ALADIN gene; 3D protein structure; Triple A syndrom
Genetic contribution of GJB2 gene to hearing impairment in Pakistan
Get PDFBackground: Hearing impairment (HI) is defined as inability to hear and is an extremely heterogeneous genetic disorder. HI is divided into syndromic (if associated with clinical manifestation in addition to hearing impairment) and non-syndromic forms. So far one hundred and seventeen loci/genes have been mapped for non-syndromic HI and mutations in DFNB1 locus (GJB2 gene) are the most prevalent cause among them. This study was intended to find the relative contribution of the DFNB1 locus/ GJB2 gene for hearing loss in Pakistan and Azad Kashmir.Methods: Twenty-one families were collected from different rural and urban regions of Pakistan and Azad Kashmir. The contribution of GJB2 gene was initially studied by linkage analysis using short tandem repeats (STR) microsatellite markers. Sanger sequencing was employed to identify the causative variants in coding region of the gene.Results: Phenotype of four families were found linked with GJB2 gene and all affected individuals of these families segregating same mutation c.231G>A (p.Trp77*) which was confirmed after Sanger sequencing.Conclusion: The genetic causes of hearing impairment were studied in twenty one families segregating autosomal recessive pattern of inheritance with different ethnicities. We further established the founder effect for the one recurrent mutation in GJB2 gene in Pakistani and Kashmiri hearing impaired families for the very first time.Keywords: DFNB1; GJB2; Hearing impairment; Pakistan and Kashmi
Effect of Spirulina supplementation and aerobic exercise on the level of cortisol and body composition in women with type 2 diabetes
Get PDFBackground: Changes in the hypothalamus-pituitary-adrenal axis and obesity play an important role in the development of diabetes. Aim of this study was to investigate the effect of spirulina supplementation and aerobic exercise on serum cortisol level and body composition in women with high BMI type 2 diabetes.Methods: In this semi-experimental study, 28 women with type 2 diabetes and overweight with mean age of 48.4 ±7 and body mass index 29.7±3.33, were randomly assigned to aerobic training groups + spirulina, aerobic training + placebo, spirulina and placebo. The aerobic training program included six weeks and running with a severity of 60-72% of maximum heart rate. The recipient groups received three 500 mg capsules of spirulina daily for six weeks before each meal. Blood samples were collected for pre-test and post-test stages in order to study the variables studied in fasting conditions. Data analysis was performed using one-way ANOVA and t-test with a significant level (p≤0.05) and using SPSS software.Results: Serum levels of cortisol in the aerobic- Spirulina group (p=0.02), aerobic group (p=0.00), and spirulina group (p=0.02) showed a significant decrease from the pre-test to post-test. Also, there was a significant difference in the level of cortisol between aerobic-spirulina group and aerobic group compared to control group (P≤0.05). However, there was no difference between the groups (fat percentage, BMI, WHR) in body composition indicators (P>0.05).Conclusion: Results of Cortisol Measurement and body composition showed that aerobic training along with supplementation with spirulina has a positive effect on the cortisol reduction in women with type 2 diabetes and can therefore reduce stress and improve the health of patients with type 2 diabetes and overweight.Keywords: Aerobic Exercise; Spirulina; Cortisol; Body Combination; Type 2 Diabetes; Overweigh
Human Cryptosporidiosis: An insight into Epidemiology, Modern Diagnostic Tools and Recent Drug Discoveries
Get PDFCryptosporidiosis is an emerging food and water borne zoonotic disease, which is caused by genusCryptosporidium. The first Cryptosporidium spp. was isolated from mice in 1907 and gained importance when it was found in an HIV positive patient. It usually causes self-limiting diarrhea in young children and immunocompetent patients. However, it may lead to chronic diarrhea with life threatening condition in immunocompromised patients. Other complications related to this transmittable infection may include respiratory problems, skin rashes and headache. HIV/AIDS patients are highly susceptible host for this parasite. Cryptosporidium parvum and Cryptosporidium hominis are the known pathogenic species, prevalent among humans and they are being transmitted through contaminated food and water. Usually, the diagnosis of Cryptosporidium spp. is dependent on microscopic technique in many countries, which has a low sensitivity and specificity leading to false positive results. However, for a step forward to successful epidemiological studies, advanced techniques (Serological and DNA-based) provide us the better ways of diagnosis with more sensitivity and specificity. Furthermore, no antiparasitic drug has found to be effective againstCryptosporidium spp. except Nitazoxanide which is FDA-approved and effective only when administered along with antiretroviral therapy. In this regard, present review summarizes the various epidemiological studies conducted around the globe along with modern diagnostic tools and the suitable treatment available now a days. This systemized review will help the scientists to better understand all the aspects of cryptosporidiosis at one platform which may help in designing surveillance studies through selection of sensitive diagnostic techniques. The new drugs mentioned in this review may also help to better control this parasite in humans, especially immunocompromised individuals
Evaluation of antimicrobial activity of a lichen used as a spice (Platismatia glauca)
Get PDFBackground: Lichen is a complex symbiotic relationship arose from algae or cyanobacteria that live together with some fungal species. Some of them are edible and consumed as spice such asPlatismatia glauca. The current study aimed to evaluate it’s the antimicrobial properties of the methanolic extract of lichen thalli of P. glauca against some referenced bacterial and yeast strains.Methods: Disc diffusion test, minimum inhibitory (MIC) and minimum bactericidal (MBC) or minimum fungicidal (MFC) tests were carried out to evaluate the antimicrobial activity of lichen.Results: All tested microorganisms exhibited varying degrees of susceptibility. Among the tested strains, the most susceptible bacterium -using the disc diffusion assay- was Staphylococcus saprophyticus (18.5±1.0 mm), followed by Staphylococcus aureus (14.5±0.5 mm), Shigella flexneri(12.5±1.5 mm), Streptococcus pneumoniae (12.0±1.0 mm), Proteus vulgaris (11.5±0.5 mm),Salmonella Typhimurium (11.5±0.5 mm), Bacillus cereus (11.0±1.0 mm) and Escherichia coli(11.0±0.0 mm), respectively. It also showed high antifungal activity against Candida albicans(22.5±0.5 mm). The MIC, MBC and MFC were promising, which were as low as 3.125 to 12.5 mg/ml for MIC and 6.25 to 12.5 mg/ml for MBC and MFC.Conclusion: From the obtained results, it is concluded that the lichen thalli of Platismatia glaucapossesses a remarkable antimicrobial activity and it may be considered as a source of potential antimicrobial agents.Keywords: Antibacterial, Antifungal, Lichen, Platismatia glauc