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Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series
Eur J Med Genet. 2022 Jun 28;65(8):104555. doi: 10.1016/j.ejmg.2022.104555. Online ahead of print.ABSTRACTDeficiency of Adenosine deaminase 2 (DADA2) is a monogenic inflammatory disease, caused by mutations in ADA2 gene, which encodes an extracellular enzyme acting as a monocyte differentiation factor. DADA2 is first described with the clinical picture resembling polyarteritis nodosa, including livedo racemose, recurrent fever, musculoskeletal complaints. Besides, some patients have cytopenia, lymphoproliferation and mild to moderate immunodeficiency. The most crucial complication of DADA2 is neurological involvement, espe...
Source: European Journal of Medical Genetics - July 1, 2022 Category: Genetics & Stem Cells Authors: Rabia Miray Kisla Ekinci Ozlem Anlas Ozge Ozalp Source Type: research

Rheumatoid Arthritis and Cardio-Cerebrovascular Disease: A Mendelian Randomization Study
Significant genetic association exists between rheumatoid arthritis (RA) and cardiovascular disease. The associated mechanisms include common inflammatory mediators, changes in lipoprotein composition and function, immune responses, etc. However, the causality of RA and vascular/heart problems remains unknown. Herein, we performed Mendelian randomization (MR) analysis using a large-scale RA genome-wide association study (GWAS) dataset (462,933 cases and 457,732 controls) and six cardio-cerebrovascular disease GWAS datasets, including age angina (461,880 cases and 447,052 controls), hypertension (461,880 cases and 337,653 c...
Source: Frontiers in Genetics - October 21, 2021 Category: Genetics & Stem Cells Source Type: research

A comprehensive meta-analysis comprising 149 case-control studies to investigate the association between IL-6 gene rs1800795 polymorphism and multiple disease risk
CONCLUSION: This meta-analysis provided strong evidence for the association between IL-6 gene rs1800795 polymorphism and multiple disease risks. The IL-6 gene could be a useful prognostic biomarker for CAD, inflammatory disease, ischemic stroke, and rheumatoid arthritis.PMID:36736866 | DOI:10.1016/j.gene.2023.147234
Source: Gene - February 3, 2023 Category: Genetics & Stem Cells Authors: Md Harun-Or-Roshid Md Nurul Haque Mollah None Jesmin Source Type: research

Genetic variation of matrix metalloproteinase enzyme in HIV-associated neurocognitive disorder.
Abstract Matrix metalloproteinases (MMPs) play a key role in several diseases such as rheumatoid arthritis, HIV-associated neurological diseases (HAND), multiple sclerosis, osteoporosis, stroke, Alzheimer's disease, certain viral infections of the central nervous system, cancer, and hepatitis C virus. MMPs have been explained with regards to extracellular matrix remodeling, which occurs throughout life and ranges from tissue morphogenesis to wound healing in various processes. MMP are inhibited by endogenous tissue inhibitors of metalloproteinases (TIMPs). Matrix metalloproteases act as an interface between host's...
Source: Gene - February 26, 2019 Category: Genetics & Stem Cells Authors: Singh H, Nain S, Krishnaraj A, Lata S, Dhole TN Tags: Gene Source Type: research

The Promoter Regions of Intellectual Disability-Associated Genes Are Uniquely Enriched in LTR Sequences of the MER41 Primate-Specific Endogenous Retrovirus: An Evolutionary Connection Between Immunity and Cognition
Discussion We have found that, in the human genome, the promoter regions of ID-associated genes are uniquely enriched in MER41 LTRs. More specifically, nine ID-associated genes that are putatively important in cognitive evolution exhibit MER41 LTRs in their promoter regions. As more than 100 families of HERV are integrated into our genome, it was important to determine whether our findings are specific to MER41 and to ID-associated genes, and if so to what extent. Among the 133 families of HERV explored here, MER41 is the only family whose LTRs were found with statistically high frequency in the promoter regions of ID-ass...
Source: Frontiers in Genetics - April 11, 2019 Category: Genetics & Stem Cells Source Type: research

Modulators of ASIC1a and its potential as a therapeutic target for age-related diseases
Ageing Res Rev. 2022 Nov 9:101785. doi: 10.1016/j.arr.2022.101785. Online ahead of print.ABSTRACTAge-related diseases have become more common with the advancing age of the worldwide population. Such diseases involve multiple organs, with tissue degeneration and cellular apoptosis. To date, there is a general lack of effective drugs for treatment of most age-related diseases and there is therefore an urgent need to identify novel drug targets for improved treatment. Acid-sensing ion channel 1a (ASIC1a) is a degenerin/epithelial sodium channel family member, which is activated in an acidic environment to regulate pathophysio...
Source: Ageing Research Reviews - November 12, 2022 Category: Genetics & Stem Cells Authors: Ren-Peng Zhou Hong-Yu Liang Wei-Rong Hu Jie Ding Shu-Fang Li Yong Chen Ying-Jie Zhao Chao Lu Fei-Hu Chen Wei Hu Source Type: research