Biochemistry & Molecular Biology

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    The Role of Angiotensin-Converting Enzyme 1 and Angiotensin-Converting Enzyme 2 Genetic Polymorphism in Severe Acute Respiratory Syndrome Coronavirus-2 in Palestinian Population
    (Al-Quds University, 2023-08-19) Lama Khaled Hammad Abu Saleh; لما خالد حماد ابو صالح
    As a key enzyme of the renin-angiotensin system (RAS), angiotensin-converting enzyme 2 (ACE2), has been validated as a SARS-CoV-2 receptor, linking RAS to COVID-19. It is likely that functional ACE1/ACE2 gene polymorphism cause the imbalance of ACE1/ACE2 ratio, causing a RAS imbalance that may contribute to the COVID-19 infection complications by causing higher lung damage and disease with severe symptoms. Herein, we developed a new genotyping method using next generation sequencing (NGS) to study four single nucleotide polymorphisms (SNPs), three for ACE1, rs4343, rs4342, rs4341 and one for ACE 2, rs2285666 in one multiplex PCR tube. Bioinformatics analysis was done using free online galaxy program (https://usegalaxy.org.au/). The association of ACE 1 (rs4343, rs4342, rs4341) and ACE 2 (rs2285666) polymorphisms with COVID-19 infection in Palestine were investigated. A total of 130 samples were collected, including 50 negative controls without COVID-19 infection, 50 positive controls with COVID-19 infection but not hospitalized, and 30 patients with severe COVID-19 infection in the intensive care unit. Results showed that the genotype distribution of ACE2 (rs2285666) polymorphism was significantly different between COVID 19 patients and the control group (P-value = 0.049, X2), while no statistical differences were observed between the ACE1 mutations (rs4341, rs4342, rs4343) and the control group (P-value > 0.05, X2). Individuals with ACE2 rs2285666 GG genotype were more prevalent in COVID-19 patients compared to control group (P-value = 0.049, X2). Age and comorbidities such as hypertension and coronary artery disease were independent risk factors for COVID-19 disease (P-value < 0.05, X2). Symptoms of COVID-19 patients such as fatigue, headaches, runny noses, and loss of smell were significantly higher in the positive cases COVID-19 (P-value < 0.05, X2), while dyspnea was more frequent in the ICU patients (P-value < 0.05, X2), In this study, we support the hypothesis that wild genotypes of ACE2 rs2285666 GG are associated with COVID-19 infection
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    Zeta potential of electric double layer for dendrimers: Monte Carlo simulation study
    (Al-Quds University, 2023-11-28) Aya Ibrahim Mousa Ja'freh; اية ابراهيم موسى جعافرة
    In this study, the potential of the electric double layer (EDL) of different generations of dendrimers in a spherical boundary system has been studied using Monte Carlo (MC) simulations. The effects of Changing the dielectric constant of the solvent, the charge and the radius of generations from G1 to G8, have been studied. The radial distribution function between dendrimer and counterions, running coordination number, integrated charge number, Z effective, zeta and surface potentials were plotted as results of simulation methods. Dendrimers possess a higher electrostatic potential near their surfaces, it increases with the increase of the counterions and the values of distributed ions and accumulated charge increase when the generation of Dendrimers increase. An observed correlation indicates that as generation increases, there's a simultaneous rise in the zeta potential of the electric double layer and the surface potential. This concurrent increase leads to a higher effective charge (Zeff) within the positive region, suggesting elevated charge accumulation. With the dielectric constant =10 that represents the cytoplasm, the interaction between dendrimer and counterions increases, as well as the accumulation near the surface that increases too. Moreover, the electrostatic correlation, the accumulated charge and the magnitude of the electrostatic potential increase with increasing the generation of Dendrimers. The surface potential increases as the generation of the dendrimer increase. However, the values of zeta potential decrease as generation of Dendrimers increase.
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    Identification and Analysis of Cutaneous Leishmaniasis in Northeastern Libya from Giemsa-Stained Tissue Smears between 2014 and 2020
    (Al-Quds University, 2023-08-05) Hemam Adel AbdulAziz Doudin; همام عادل عبد العزيز دودين
    Cutaneous leishmaniasis (CL) is a prevalent skin infection caused by the transmission of a protozoan parasite through the bite of a phlebotomine sandfly. This study aimed to evaluate the epidemiological aspects of CL in patients attending the dermatology clinic of the main referral hospital in Zliten, Libya. Data from 355 patients diagnosed with CL between 2014 and 2020 were analyzed to determine the incidence of CL and its distribution based on age, sex, residence, season, and affected body sites. In addition, this study aimed to identify the species of Leishmania using the ITS1-RFLP PCR technique and to compare the sensitivity and specificity of different PCR-based assays targeting the Ribosomal Internal Transcribed Spacer 1(ITS-1), Hexokinase (HK), and Phosphoglucomutase (PGM) genes on Gimza stained tissue smears. Furthermore, the study assessed the current spatiotemporal distribution of CL cases and projected the future incidence of the disease. The findings revealed a higher risk of CL in the coastal regions of Libya. The projected trends until 2060 indicated an increasing incidence of CL in the north-western part of Libya, a spread along the coastal region, and pthe otential emergence of new endemic areas in the north-eastern districts. These findings highlight the need for health authorities to develop appropriate effective control programs. The majority of patients in this study came from Zliten and its suburban areas, with a minority from neighboring cities.
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    Genetic Screening of Xeroderma Pigmentosum Disorder in a Palestinian Family
    (Al-Quds University, 2023-08-13) Farouq Ziyad Rashad Nather; فاروق زياد رشاد ناظر
    Xeroderma pigmentosum (XP) is an uncommon autosomal recessive genetic disorder characterized by an extreme sensitivity of the skin to sunlight, particularly UV light, and an elevated risk of skin cancer. Some patients with XP also exhibit neurological symptoms. The majority of XP cases are attributed to mutations in eight specific genes (XPA through XPG and XPV). The XP-V subtype of the disease results from mutations in a gene called XPV, also known as POLH, responsible for encoding Pol eta, a member of the Y-DNA polymerase family. XP variant represents a milder form of XP caused by variants in the POLH gene. POLH encodes an error-prone DNA polymerase eta, which plays a crucial role in synthesizing past UV-induced photoproducts. In the current study, we aimed to look for the underlying molecular cause of XP in a Palestinian family with multiple affected individuals suffering from the disease. WES analysis in the Proband led us to the identification of a homozygous frame-shift mutation c.106_118del p. (Val36Asnfs*8) in POLH which is responsible for the disease. Subsequently, clinical investigations and familial segregation analysis using Sanger sequencing were performed to check which family members are homozygous/ heterozygous (genotype) for the frameshift mutation. Interestingly, we discovered that a 60-year-old family member without any medical history is a homozygous for the mutation. In conclusion, this study enabled us to establish the genetic diagnosis of XP in a Palestinian family by the identification of a new disease-causing mutation in the DNA polymerase eta (POLH gene). This Shows the significance of molecular diagnosis for accurate identification of the disease and provides valuable information for proper genetic counseling in families affected by XP.
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    Genetic Mutation in Metastatic Bresat Cancer in Lumnial A Tumors, which may cause a Resistant to Hormonal Therapy in Palestine
    (Al-Quds University, 2023-08-06) Diala issa salem hammad; ديالا عيسى سالم حماد
    Molecular classification for breast cancer has many important diagnostic therapeutic and prognostic implications for breast cancer patients, which depends on molecular types presented or missing in cancerous cells. The Luminal A subtype, contain Estrogen receptors (E.R.), Progesterone receptors (P.R.) while missing Human epidermal growth factor-2 (HER2). Those patients are treated by hormonal therapy that targets these receptors to reduce or stop cancer cell growth and survival. In general, these patients have the best prognosis and the disease is more treatable than other subgroups. Some patients may develop hormonal therapy resistance for many reasons. In this research, we want to study the most common genetic mutation that causes hormonal therapy resistance. Material and method: This research contains two parts. First, we review a result tested in a tissue sample by Next generation sequencing (NGS) in sixteen patients diagnosed with metastatic breast cancer, Luminal A, treated with hormonal therapy, and developed a disease progression through the treatment management to know the most common mutation in the population. Second, tested three patients that were positive in the first part and targeted these mutations by Polymerase chain reaction (PCR) and sanger sequencing in a blood sample. Results The most common mutation that causes hormonal therapy resistance are ESR1 and PIK3CA mutations, and these mutations cannot be detected by PCR method. Conclusion These mutations need a specific method that covers all mutations that cause hormonal therapy resistance and disease progression in breast cancer patients. We need a specific method such as ddPCR to detect the mutation in ctDNA liquid biopsy.