Background: Epidemiological studies have shown a strong inverse relationship between high-density lipoprotein (HDL) cholesterol (HDLc) levels and coronary artery disease (CAD), and a low concentration of plasma HDLc is considered an independent risk factor for premature atherosclerosis. Mutations in ATP-binding cassette A1 transporter (ABCA1), cholesteryl ester transfer protein (CETP), and lecithin: cholesterol acyltransferase (LCAT) reduce HDLc in humans.
Objective: To date, no study had tested the association between these polymorphisms and premature CAD (PCAD) in the Egyptian population. Here we searched for ABCA1 (rs2230806), CETP (rs708272), and LCAT (rs5923) mutations in the Egyptian population and investigated the possible association between these gene polymorphisms and PCAD. We aimed to investigate the association between ABCA1, CETP, and LCAT gene polymorphisms and PCAD in Egyptians.
Methods: A total of 235 Egyptians-116 with documented PCAD (PCAD group) and 119 controls-were enrolled in the study.
Results: Mutation carriers with low HDLc had an elevated risk of PCAD (odds ratio [OR] = 11.38 for ABCA1 mutation carriers, P = .000; OR = 5.41 for CETP mutation carriers, P = .000; OR = 5.92 for LCAT mutation carriers, P = .000). Moreover, mutations in ABCA1, CETP, and LCAT were significantly associated with hyperlipidemia in this study.
Conclusion: These observations show that the R allele of ABCA1, the B1 allele of CETP, and the T allele LCAT genes are associated with PCAD in Egyptians. They have more considerable effect on patients with low HDLc.
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http://dx.doi.org/10.1016/j.jacl.2014.06.001 | DOI Listing |
Chembiochem
January 2025
Osaka University: Osaka Daigaku, International Center for Biotechnology, JAPAN.
Bacillibactin (BB) is a microbial siderophore produced by Bacillus species. BB is biosynthesized from 2,3-dihydroxybenzoic acid (2,3-DHB), Gly, and L-Thr by nonribosomal peptide synthetase (NRPS) enzymes DhbE, DhbB, and DhbF. The biosynthetic gene cluster (dhb) is also conserved in some strains of thermophilic genera, Geobacillus, Anoxybacillus and Parageobacillus.
View Article and Find Full Text PDFCurr Protoc
January 2025
Myriad Genetic Laboratories, Inc., Salt Lake City, Utah.
Balanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding the likelihood of producing unbalanced conceptuses is critical for individuals to make reproductive decisions, risk estimates are difficult to obtain as most balanced translocations are unique. To improve reproductive risk estimates, Drs.
View Article and Find Full Text PDFUnlabelled: Autism Spectrum Disorder (ASD) is characterized by restricted and repetitive behaviors and social differences, both of which may manifest, in part, from underlying differences in corticostriatal circuits and reinforcement learning. Here, we investigated reinforcement learning in mice with mutations in either or , both high-confidence ASD risk genes associated with major syndromic forms of ASD. Using an odor-based two-alternative forced choice (2AFC) task, we tested adolescent mice of both sexes and found male and heterozygote (Het) mice showed enhanced learning performance compared to their wild type (WT) siblings.
View Article and Find Full Text PDFJ Alzheimers Dis
January 2025
Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Background: Understanding the sequential progression of cognitive decline in autosomal dominant Alzheimer's disease (ADAD) in the Latino population is crucial for enhancing early identification for targeted interventions. Given the tablet-based administration and increasing frequency of use in epidemiological research, validating this progression within the NIH Toolbox cognitive battery (NIHTB-CB) is important.
Objective: The first aim was to utilize an innovative Event-Based Modeling (EBM) analytic approach to estimate the sequence of cognitive declines in persons at risk for ADAD enriched for being of Latino origin.
FEBS Lett
January 2025
Department of Chemistry, Tokyo Institute of Technology (Institute of Science Tokyo), Japan.
Modular polyketide synthases (PKSs) are multi-domain enzymes involved in the biosynthesis of polyketide natural products. The dehydratase (DH) domain catalyzes the dehydration of the β-hydroxyacyl unit attached to the acyl carrier protein (ACP) domain in modular PKS. Although the DH domain likely recognizes the cognate ACP domain during the dehydration reaction, the molecular basis of DH-ACP interactions remains elusive.
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