Showing 5 results for zakeri
Mana Zakeri, Amir Hosein Babaei, Mohamad Taghi Akbari, Shohreh Zare, Faravar Khordadpoor,
Volume 14, Issue 5 (Sep-Oct 2020)
Abstract
Background and objective: Huntington's disease (HD) is an autosomal dominant disorder that mainly affects adults. Although mutations in the IT15 gene have been known as the main cause of the disease, patients with HD like (HDL) syndrome have mutations in genes other than the IT15 gene. In this study, we investigate the frequency of mutations in SCA17/TBP, JPH3 and PRNP genes in patients with HDL syndrome.
Methods: The frequency of mutations in SCA17/TBP, JPH3 and PRNP genes was studied in 56 patients with HDL phenotype but without trinucleotide expansion in the IT15 gene. DNA was extracted from peripheral whole blood by the salting out method. PCR was performed using specific primers for each gene. PCR products were separated on polyacrylamide gel. Sequencing was performed on some samples to confirm the PCR results.
Results: We found neither trinucleotide expansion in the JPH3 and SCA17, nor octapeptide insertion in the PRNP gene.
Conclusion: Based on the results, Iranian patients with HDL syndrome do not have mutation in the TBP, JPH3 and PRNP genes. However, this result may be due to population differences, rarity of the mutations in the studied genes and the small number of study subjects. Therefore, studies with a larger study population that investigate other mutations, such as point mutations in the mentioned genes may help clarify the exact cause of HDL phenotype in Iranian patients.
Mana Zakeri, Alireza Mohebbi, Fatemeh Sana Askari, Mohammad Yasaghi,
Volume 14, Issue 6 (Nov-Dec 2020)
Abstract
Background and objectives: Pathogenesis of human papillomaviruses (HPVs) is controlled by viral and host factors, among which human histone acetyltransferase p300 (EP300) plays an important role. This study aimed to examine single nucleotide polymorphisms (SNPs) at the EP300 binding site in patients with HPV-associated anogenital wart.
Methods: After DNA extraction, polymerase chain reaction was performed to determine HPV genotypes. Human p300 was amplified to detect SNPs using Sanger sequencing.
Results: Overall, 35.3% of HPV-6-positive patients had Ile997Val substitution at the EP300 binding site. Another SNP containing A to G point mutation leading to Glu983Gly was also detected. In addition, Ile997Val substitution of EP300 was frequently observed in the patients.
Conclusion: Our findings suggest that the EP300 genotype Ile/Val can be involved in HPV-6 pathogenesis. In addition, we introduced a new genotype (Glu983Gly) at the EP300 bromodomain site, which requires further investigation.
Mana Zakeri, Forough Taheri, Masoomeh Rezanezhadi, Mohammad Ali Zaimy, Alaa Laebi Abdullah,
Volume 15, Issue 4 (Jul-Aug 2021)
Abstract
Background: Klinefelter syndrome (KS) also known as 47, XXY is one of the most prevalent chromosomal abnormalities among men. Infertility is one of the most primary features of this condition. However, there are some other associated features such as thin and tall appearance, absent, delayed or incomplete puberty, small and firm testicles, small penis and gynecomastia.
Case description: We herein report a patient with mosaic KS whose karyotype consisted of 47, XXY/46, XY. The case’s wife had two miscarriages, followed by a healthy girl with a normal karyotype who was born taller than the average at the age of two.
Conclusion: Mosaic KS dramatically increases the chance of having healthy offspring with normal genetic patterns without performing artificial insemination methods compared to those with complete KS.
Mana Zakeri, Elham Alimoradi, Effat Seyyedhashemi, Shayan Marhamati, Vahid Tajari, Hamidreza Joshaghani,
Volume 17, Issue 2 (Mar-Apr 2023)
Abstract
Background and objectives: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease, caused by abnormal innate and adaptive immune responses. Anti-nuclear antibodies (ANA) and anti-double stranded DNA (anti-dsDNA) are reliable biomarkers for diagnosing SLE. Here, we aimed to investigate the serum levels of anti-dsDNA and ANA antibodies, their diagnostic utilities, and their relationship with disease activity and clinical/laboratory manifestations in patients with suspected.
Methods: We evaluated the plasma levels of ANA and anti-dsDNA antibodies in all individuals with suspected SLE (n=668) who had been referred to rheumatology clinics in Gorgan, Iran. The level of antibodies as well as C3, C4, and CH50 were determined using commercially available enzyme-linked immunosorbent assay kits.
Results: The mean level of ANA and anti-dsDNA antibodies differed significantly between the ANA-positive and ANA-negative groups (p<0.001). However, there was no significant difference in the mean values of C3 (p=0.233), C4 (p=0.415, and CH50 (p=0.482) between the two groups. Moreover, there was a significant positive correlation between ANA and anti-dsDNA levels (p<0.001, r=0.50).
Conclusion: Our findings indicate that anti-dsDNA levels are higher in ANA-positive individuals, and there may be a positive correlation between ANA and anti-dsDNA levels. It is recommended to evaluate the diagnostic and prognostic values of ANA and anti-dsDNA antibodies in future studies.
Ommolbanin Younesian, Behnaz Khodabakhshi, Sara Hosseinzadeh, Seyedeh Somayeh Hosseini Alarzi, Samareh Younesian, Mojtaba Pourmomen, Mana Zakeri, Ali Hosseini, Professor Hamidreza Joshaghani,
Volume 17, Issue 5 (Sep-Oct 2023)
Abstract
Background: Although public health interventions have slowed the spread of SARS CoV 2 infections, the worldwide pandemic of COVID 19 is progressing. Thus, effective and safe vaccination against SARS CoV 2 is an important tool for controlling the COVID 19 pandemic. Now in the early stages of COVID 19 vaccination, vaccinated individuals are interested in using antibody tests to confirm vaccination success and estimate the time of protection. Here, we assessed anti spike IgG responses in the general population 2 weeks after the second dose of the Sputnik V vaccine.
Methods: This study included blood samples of 67 individuals without a previous SARS CoV 2 infection taken 14 days after the second dose of the Sputnik V vaccine. Anti spike IgG responses were assessed with an enzyme linked immunosorbent assay (ELISA).
Results: Anti spike IgG was detected in 55 (82.1%) of 67 samples 14 days after the second dose of the Sputnik V vaccine. Antibody levels were significantly lower in males than in females, and 9 (75%) of 12 seronegative individuals were males.
Conclusion: Vaccination resulted in detectable anti spike IgG in 82.1% of individuals, and gender may be an important factor in the humoral response.
