Review
Biochemistry & Molecular Biology
Camila Barbosa Oliveira, Camilla Albertina Dantas Lima, Gisele Vajgel, Paula Sandrin-Garcia
Summary: This review manuscript discusses the relationship between the NLRP3 inflammasome, SLE, and LN, emphasizing the impact of genetic susceptibility of NLRP3 polymorphisms on the disease and exploring NLRP3 inhibition mechanisms for the development of potential therapeutic drugs for LN.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Immunology
Niloufar Yazdanpanah, Arezou Rezaei, Vahid Ziaee, Nima Rezaei
Summary: Juvenile systemic lupus erythematosus (JSLE) is a complex disorder with unclear causes. Environmental factors, genetic factors, and immune system dysregulation are believed to play a role in JSLE etiology. The NLRP3 inflammasome, an important mediator of inflammation, is thought to be involved in JSLE etiology. This study found that the CT genotype of the NLRP3 rs3806265 gene was more common in patients with JSLE compared to healthy controls.
IMMUNOLOGICAL INVESTIGATIONS
(2023)
Article
Rheumatology
Yi-Lin Dan, Chan-Na Zhao, Yan-Mei Mao, Qian Wu, Yi-Sheng He, Yu-Qian Hu, Kun Xiang, Xiao-Ke Yang, Napoleon Bellua Sam, Guo-Cui Wu, Hai-Feng Pan
Summary: This study found that the single nucleotide polymorphisms (SNPs) of the Period 2 (PER2) gene are associated with the genetic susceptibility and clinical manifestations of systemic lupus erythematosus (SLE).
Review
Immunology
Yaling Liu, Xinyu Tao, Jinhui Tao
Summary: This paper reviews the role of inflammasomes in the pathogenesis of SLE and their therapeutic implications. It points out that inflammasomes not only regulate the abnormal differentiation of immune cells, but also modulate the production of pathogenic autoantibodies and participate in organ damage.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Fei-fei Chen, Xiao-tian Liu, Juan Tao, Zhao-min Mao, Hui Wang, Ying Tan, Zhen Qu, Feng Yu
Summary: The current study aimed to evaluate the activation of renal NLRP3 inflammasome pathway in Chinese lupus nephritis (LN) patients and its clinicopathological significances. It was found that expressions of NLRP3, ASC, caspase-1, IL-1 beta and IL-18 were significantly higher in the kidneys of LN patients, mainly in glomerular mesangial cells, podocytes, renal tubular epithelial cells, and macrophages. The expressions of NLRP3, ASC, caspase-1, and IL-1 beta were positively correlated with SLEDAI scores and renal pathological activity indices, while NLRP3 expression was negatively associated with chronicity scores. Furthermore, glomerular caspase-1 levels were positively correlated with foot process width, and podocyte injury markers were decreased significantly in LN patients with higher caspase-1 expression. The findings suggest that renal NLRP3 inflammasome is activated in LN patients and correlated with disease activity, which warrants further exploration.
CLINICAL IMMUNOLOGY
(2023)
Article
Rheumatology
Yan-Mei Mao, Yi-Sheng He, Guo-Cui Wu, Yu-Qian Hu, Kun Xiang, Tao Liao, Yu-Lu Yan, Xiao-Ke Yang, Zong-Wen Shuai, Gui-Hong Wang, Hai-Feng Pan, Dong-Qing Ye
Summary: The study revealed an association between the MALAT-1 gene rs4102217 locus and susceptibility to SLE, with the GG+CG genotype potentially decreasing the risk of developing SLE.
Article
Immunology
Ding-Ping Chen, Wei-Tzu Lin, Kuang-Hui Yu
Summary: This study investigated the correlation between SLE and the genetic polymorphisms of co-stimulatory/co-inhibitory molecules, and found nine SNPs associated with SLE. These SNPs play an important role in immune regulation and pathogenic mechanisms.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Elmira Agah, Shahriar Nafissi, Fatemeh Saleh, Payam Sarraf, Abbas Tafakhori, Seyed Vahid Mousavi, Amene Saghazadeh, Maryam Sadr, Farnaz Sinaei, Bahareh Mohebbi, Mahdi Mahmoudi, Hamideh Shadi, Nima Rezaei
Summary: The association between NLRP3 gene polymorphisms and myasthenia gravis (MG) was investigated in a case-control study. Results showed a significant association between NLRP3 rs3806265 C allele and MG, suggesting a potential link between NLRP3 gene polymorphisms and MG.
Article
Medicine, Research & Experimental
Weijie Wang, Xinchang Wang, Kepeng Yang, Yongsheng Fan
Summary: This study showed that the polymorphisms of BCL2 and the IL19 SNP rs2243188 are closely related to the pathogenesis of SLE. Carrying specific genotypes of these genes may increase the risk of developing SLE.
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
(2021)
Article
Rheumatology
Jianzhao Zhai, Ping Zhang, Naidan Zhang, Yubin Luo, Yongkang Wu
Summary: The study revealed that the PHLDB1 rs7389T/G and WDFY4 rs7097397G/A polymorphisms were associated with SLE susceptibility in western China. The rs7389T/G variant was linked to increased TNF-alpha levels, while the rs7097397G/A variant was correlated with decreased IL-1 beta and IL-6 levels as well as an elevated positive rate of antinuclear antibodies.
CLINICAL RHEUMATOLOGY
(2022)
Article
Genetics & Heredity
Werbson Lima Guarana, Camilla Albertina Dantas Lima, Alexandre Domingues Barbosa, Sergio Crovella, Paula Sandrin-Garcia
Summary: The immune system plays a critical role in the pathophysiology of postmenopausal osteoporosis. This study found associations between single-nucleotide variants in NLRP3 inflammasome complex genes and bone mineral density, suggesting their involvement in bone metabolism and dysregulation.
Article
Immunology
Honghong Yu, Qi Li, Huimin Zhu, Chang Liu, Weiwei Chen, Lingyun Sun
Summary: The activation of the inflammasome plays a critical role in the pathogenesis of systemic lupus erythematosus (SLE), and mesenchymal stem cells (MSC) have been shown to alleviate SLE by suppressing inflammasome activation. This study found that the NLRP3 inflammasome was activated in macrophages from SLE patients and mice, and its activation correlated with disease activity. After MSC transplantation, the severity of SLE was reduced, and NLRP3 inflammasome activation was inhibited. These findings suggest that MSC suppress inflammasome activation and provide a potential therapeutic target for SLE.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2024)
Article
Rheumatology
Yasser B. M. Ali, Basima A. El-Akhras, R. El-Shazly, Iman H. Bassyouni
Summary: Cytokine polymorphisms are associated with SLE pathogenicity, including the important cytokine IL-27. A study on Egyptian population showed that the TG genotype and G allele of the IL-27p28 gene may be risk factors for SLE susceptibility.
CLINICAL RHEUMATOLOGY
(2021)
Article
Immunology
Melissa Northcott, Linden J. Gearing, Julie Bonin, Rachel Koelmeyer, Alberta Hoi, Paul J. Hertzog, Eric F. Morand
Summary: The effects of medication on gene module expression in SLE patients are significant, emphasizing the need to control for medication exposure in studies of gene expression in SLE.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Ivan Sammir Aranda-Uribe, Juan Carlos Lopez-Vazquez, Rosa Elda Barbosa-Cobos, Julian Ramirez-Bello
Summary: The study investigated the association between TLR4 and TLR9 gene polymorphisms with rheumatoid arthritis and systemic lupus erythematosus in Mexican patients, and found that these variants are not risk factors for RA or SLE in this population.
MOLECULAR BIOLOGY REPORTS
(2021)
Review
Biochemistry & Molecular Biology
Meysam Mosallaei, Naeim Ehtesham, Shima Rahimirad, Mostafa Saghi, Nasim Vatandoost, Sharifeh Khosravi
Summary: This review highlights the sensitivity and specificity of peripheral blood mononuclear cells (PBMCs) as intact biomarkers in various diseases, providing a non-invasive option for diagnosis.
ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY
(2022)
Review
Biotechnology & Applied Microbiology
Mohammad Reza Karimzadeh, Peyman Pourdavoud, Naeim Ehtesham, Mohaddese Qadbeigi, Masood Movahedi Asl, Behrang Alani, Meysam Mosallaei, Bahram Pakzad
Summary: Disruption in DNA methylation processes can lead to gene expression alterations and malignancy. Regulating DNA methylation machinery through epi-miRNAs may be a promising approach for cancer therapy.
CANCER GENE THERAPY
(2021)
Article
Allergy
Naeim Ehtesham, Behrang Alani, Deniz Mortazavi, Sara Azhdari, Taiebe Kenarangi, Emran Esmaeilzadeh, Bahram Pakzad
Summary: The study found a significant association between NOD2 gene SNPs rs3135500 and the risk of rheumatoid arthritis, as well as a relationship with disease activity in patients.
IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Naeim Ehtesham, Shahnaz Shahrbanian, Mohammad Valadiathar, Seyed Javad Mowla
Summary: This study investigates the impact of exercise on miRNA expression in individuals with obesity, highlighting the role of miRNAs in obesity and exercise adaptation mechanisms. Further research is needed to fully understand the underlying molecular pathways.
MOLECULAR BIOLOGY REPORTS
(2021)
Review
Clinical Neurology
Naeim Ehtesham, Maryam Zare Rafie, Meysam Mosallaei
Summary: The prevalence of familial multiple sclerosis varies among different age groups, influenced by geographical areas, and decreases with higher latitude and higher MS prevalence.
Review
Obstetrics & Gynecology
Mohammad Reza Karimzadeh, Naeim Ehtesham, Deniz Mortazavi, Sara Azhdari, Meysam Mosallaei, Maria Nezamnia
Summary: The dysregulation of epigenetic signatures, including DNA methylation and miRNAs, may play a crucial role in the pathomechanism of Down syndrome (DS). Research has found more hypermethylation regions and miRNAs encoded by genes on chromosome 21 in DS fetuses. However, there is disagreement in recruiting epigenetic biomarkers for the non-invasive prenatal diagnosis of DS due to heterogeneity in results. More experiments are needed before utilizing epigenetic signatures for NIPD of DS.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2021)
Article
Genetics & Heredity
Meysam Mosallaei, Naeim Ehtesham, Maryam Beheshtian, Shahrouz Khoshbakht, Behzad Davarnia, Kimia Kahrizi, Hossein Najmabadi
Summary: This study identified the genotype and phenotype spectrum of GEF mutations in a large Iranian cohort with intellectual disability and/or developmental delay. Disease-causing variants were found in eight GEF genes, and the major clinical manifestations included speech disorder, intellectual disability, developmental delay, inability to walk, facial dysmorphisms features, abnormalities in skull morphology, hypotonia and muscle weakness, and brain MRI abnormalities.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Rheumatology
Somayeh Zeinalzadeh, Nahid Kheradmand, Ghazal Rasouli, Emran Esmaeilzadeh, Bahram Pakzad, Javad Behroozi, Mohsen Chamanara, Mojtaba Yousefi Zoshk, Naeim Ehtesham, Mehrdad Nasrollahzadeh Sabet
Summary: This study found a significant association between IL-16 gene rs1131445 polymorphism and increased risk of RA, but not with SLE risk. Additionally, the C allele of rs1131445 was associated with disease activity-associated laboratory parameters in RA and SLE patients, as well as higher incidence of neurological symptoms in SLE subjects.
CLINICAL RHEUMATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Mohsen Soosanabadi, Arezoo Mosharraf Ghahfarokhi, Farzad Pourghazi, Naeim Ehtesham, Reza Mirfakhraie, Lilit Atanesyan, Elahe Keyhani, Farkhondeh Behjati
Summary: This study investigates the correlation between the overexpression of four ERBB genes and clinicopathological characteristics in breast cancer. The findings suggest that overexpression of ERBB1 and ERBB2 is associated with unfavorable clinicopathological characteristics, while overexpression of ERBB4 is linked to favorable outcomes.
MOLECULAR BIOLOGY REPORTS
(2022)
Review
Rheumatology
Naeim Ehtesham, Mohammad Reza Habibi Kavashkohie, Seyed Amirhossein Mazhari, Sara Azhdari, Hamta Ranjbar, Meysam Mosallaei, Ebrahim Hazrati, Javad Behroozi
Summary: This study examined the alterations of DNA methylation in systemic lupus erythematosus (SLE) patients. It was found that the methylation status of certain genes, especially IFI44L, FOXP3, and MX1, may serve as potential biomarkers for SLE. However, due to potential confounders and shared DNA methylation patterns with other autoimmune diseases, DNA methylation biomarkers are currently not reliable diagnostic markers for SLE.
Article
Medicine, General & Internal
Naeim Ehtesham, Meysam Mosallaei, Maryam Beheshtian, Shahrouz Khoshbakht, Mahsa Fadaee, Raheleh Vazehan, Mehrshid Faraji Zonooz, Parvaneh Karimzadeh, Kimia Kahrizi, Hossein Najmabadi
Summary: This study delineates the genotype and phenotype spectrums of Iranian patients with intellectual disability and/or developmental delay. The most common phenotypes include intellectual disability, seizures, developmental delay, behavioral abnormalities, hypotonia, speech disorders, gait disturbances, and ataxia. Electroencephalography abnormality is the major brain imaging abnormality.
ARCHIVES OF IRANIAN MEDICINE
(2022)
Article
Immunology
Mehrdad Nasrollahzadeh Sabet, Navid Nasrabadi, Zahra Jalili, Bahram Pakzad, Saeideh Davar, Naeim Ehtesham, Sima Jafarpour, Meysam Mosallaei, Emran Esmaeilzadeh
Summary: The study revealed a significant association between the rs4612666 polymorphism and increased risk of RA in the Iranian population, with a correlation between rs4612666 and rs10754558 polymorphisms and disease activity. However, there was no significant association found between the genotype and allele frequency of rs10754558 and rs6672995 and the risk of RA.
IRANIAN JOURNAL OF IMMUNOLOGY
(2021)
Article
Medicine, General & Internal
Maryam Pirhoushiaran, Sara Hesami, Naeim Ehtesham, Saman Mehrabi, Reza Shirkoohi, Nasrin Yazdani, Maryam Lotfi, Abbas Shakoori Farahani
Summary: This study demonstrated that Fer1L4 could serve as a novel diagnostic biomarker for HNSCC. Additionally, the significant difference in expression of Fer1L4 and DANCR in metastatic tumors suggests that these two lncRNAs could be promising targets for therapeutic purposes.ROC curve analysis revealed that Fer1L4 had good diagnostic power.
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
(2021)
Letter
Public, Environmental & Occupational Health
Ramin Hamidi Farahani, Meysam Mosallaei, Ebrahim Hazrati, Naeim Ehtesham, Bahram Pakzad, Mehrdad Nasrollahzadeh Sabet, Emran Esmaeilzadeh
IRANIAN JOURNAL OF PUBLIC HEALTH
(2021)