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Biology subjects

Rodriguez, S.

Publications and source records attributed to Rodriguez, S..

43 records · Page 3Linked to original sources

Machine Learning Identifies Novel Candidates for DrugRepurposing in Alzheimer's Disease

Clinical trials of novel therapeutics for Alzheimers Disease (AD) have consumed a large amount of time and resources with largely negative results. Repurposing drugs already approved by the Food and Drug Administration (FDA) for another indication is a more rapid and less expensive option. Repurposing can yield a useful therapeutic and also accelerate proof of concept studies that ultimately lead to a new molecular entity. We present a novel machine learning framework, DRIAD (Drug Repurposing In AD), that quantifies potential associations between the pathology of AD severity (the Braak stage) and molecular mechanisms as encoded in lists of gene names. DRIAD was validated on gene lists known to be associated with AD from other studies and subsequently applied to evaluate lists of genes arising from perturbations in differentiated human neural cell cultures by 80 FDA-approved and clinically tested drugs, producing a ranked list of possible repurposing candidates. Top-scoring drugs were inspected for common trends among their nominal molecular targets and their "off-targets", revealing a high prevalence of kinases from the Janus (JAK), Unc-51-like (ULK) and NIMA-related (NEK) families. These kinase families are known to modulate pathways related to innate immune signaling, autophagy, and microtubule formation and function, suggesting possible disease-modifying mechanisms of action. We propose that the DRIAD method can be used to nominate drugs that, after additional validation and identification of relevant pharmacodynamic biomarker(s), could be evaluated in a clinical trial.

neuroscience↗

Genomic characterization of the non-O1/non-O139 Vibrio cholerae strain that caused a gastroenteritis outbreak in Santiago, Chile, 2018

Vibrio cholerae is a human pathogen, which is transmitted by the consumption of contaminated food or water. V. cholerae strains belonging to the serogroups O1 and O139 can cause cholera outbreaks and epidemics, a severe life-threatening diarrheal disease. In contrast, serogroups other than O1 and O139, denominated as non-O1/non-O139, have been mainly associated with sporadic cases of moderate or mild diarrhea, bacteremia and wound infections. Here we investigated the virulence determinants and phylogenetic origin of a non-O1/non-O139 V. cholerae strain that caused a gastroenteritis outbreak in Santiago, Chile, 2018. We found that this outbreak strain lacks the classical virulence genes harboured by O1 and O139 strains, including the cholera toxin (CT) and the toxin-coregulated pilus (TCP). However, this strain carries genomic islands (GIs) encoding Type III and Type VI secretion systems (T3SS/T6SS) and antibiotic resistance genes. Moreover, we found these GIs are wide distributed among several lineages of non-O1/non-O139 strains. Our results suggest that the acquisition of these GIs may enhance the virulence of non-O1/non-O139 strains that lack the CT and TCP-encoding genes. Our results highlight the pathogenic potential of these V. cholerae strains. DATA SUMMARYSequence data were submitted to GenBank under the accession number SRLP00000000. The authors confirm that all supporting data and protocols have been provided within the article or through supplementary data files. Data statementAll supporting data, code and protocols have been provided within the article or through supplementary data files. Four supplementary tables are available with the online version of this article.

microbiology↗

Revealing an extended critical window of recovery post-stroke

The impact of rehabilitation on post-stroke motor recovery and its dependency on the patients chronicity remain unclear. The existence and regularity of a, so called, proportional recovery rule across a range of functional deficits and therapies supports the notion that functional interventions have little or no impact beyond spontaneous recovery rates in a critical window of recovery which lasts from 3 to 6 months post-stroke. In this meta-analysis, we apply a bootstrap analysis method to assess the overall impact of a specific VR-based rehabilitation protocol for the upper extremities on a homogeneous sample of 219 individuals with hemiparesis at various stages post stroke. Our analysis uncovers a precise gradient of sensitivity to treatment that expands more than one year beyond the limits of the so-called critical window of recovery. These findings redefine the limits of the so-called critical window of recovery and suggest that stroke-derived plasticity mechanisms do facilitate functional recovery even at the chronic and late chronic stage.

neuroscience↗

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

Mitochondrial DNA copy number (mtDNA CN) exhibits interindividual and intercellular variation, but few genome-wide association studies (GWAS) of directly assayed mtDNA CN exist.\n\nWe undertook a GWAS of qPCR-assayed mtDNA CN in the Avon Longitudinal Study of Parents and Children (ALSPAC), and the UK Blood Service (UKBS) cohort. After validating and harmonising data, 5461 ALSPAC mothers (16-43 years at mtDNA CN assay), and 1338 UKBS females (17-69 years) were included in a meta-analysis. Sensitivity analyses restricted to females with white cell-extracted DNA, and adjusted for estimated or assayed cell proportions. Associations were also explored in ALSPAC children, and UKBS males.\n\nA neutrophil-associated locus approached genome-wide significance (rs709591 [MED24], {beta}[SE] -0.084 [0.016], p=1.54e-07) in the main meta-analysis of adult females. This association was concordant in magnitude and direction in UKBS males and ALSPAC neonates. SNPs in and around ABHD8 were associated with mtDNA CN in ALSPAC neonates (rs10424198, {beta}[SE] 0.262 [0.034], p=1.40e-14), but not other study groups. In a meta-analysis of unrelated individuals (N=11253), we replicated a published association in TFAM {beta}[SE] 0.046 [0.017], p=0.006), with an effect size much smaller than that observed in the replication analysis of a previous in silico GWAS.\n\nIn a hypothesis-generating GWAS, we confirm an association between TFAM and mtDNA CN, and present putative loci requiring replication in much larger samples. We discuss the limitations of our work, in terms of measurement error and cellular heterogeneity, and highlight the need for larger studies to better understand nuclear genomic control of mtDNA copy number.

genomics↗

Genome-encoded Cytoplasmic Double-Stranded RNAs, Found in C9ORF72 ALS-FTD Brain, Provoke Propagated Neuronal Death

Innate immune signaling activation and DNA damage are pathological hallmarks of aging that may herald multiple adult-onset neurodegenerative diseases. Here, we report that both cell autonomous and non-autonomous neuronal death are triggered by the production of cytoplasmic double-stranded RNA (cdsRNA) from a regulated, disarticulated transgene in the setting of type I interferon (IFN-I) signaling. CdsRNA is a pathogen associated molecular pattern that induces IFN-I in many cell types. Transfection of a dsRNA mimetic into cultured human neurons also induces IFN-I signaling and cell death in a dose-dependent manner. Direct relevance to human disease is found in neurons of ALS-FTD patients carrying C9ORF72 intronic hexanucleotide expansions; cdsRNA isolated from these tissues is comprised of repeat sequences. Together, these findings implicate cdsRNA generated from genomic sequences in neurons as a trigger for sterile, viral-mimetic IFN-I induction and propagated neuronal death within in a neural circuit in the aging nervous system.

neuroscience↗

Hematology, biochemistry, and toxicology of wild hawksbill turtles (Eretmochelys imbricata) nesting in mangrove estuaries in the eastern Pacific Ocean

Sea turtles are a keystone species and are highly sensitive to changes in their environment, making them excellent environmental indicators. In light of environmental and climate changes, species are increasingly threatened by pollution, changes in ocean health, habitat alteration, and plastic ingestion. There may be additional health related threats and understanding these threats is key in directing future management and conservation efforts, particularly for severely reduced sea turtle populations. Hawksbill turtles (Eretmochelys imbricata) are critically endangered, with those in the eastern Pacific Ocean (Mexico-Peru) considered one of the most threatened sea turtle populations in the world. This study establishes baseline health parameters in hematology and blood biochemistry as well as tested for heavy metals and persitent organic pollutants in eastern Pacific hawksbills at a primary nesting colony located in a mangrove estuary. Whereas hematology and biochemistry results are consistent with healthy populations of other species of sea turtles, we identified differences in packed cell volume, heterophils and lympohcyte counts, and glucose when comparing our data to other adult hawksbill analysis (1), (2), (3). Our analysis of heavy metal contamination revealed a mean blood level of 0.245 ppm of arsenic, 0.045 ppm of lead, and 0.008 ppm of mercury. Blood levels of persistent organic pollutants were below the laboratory detection limit for all turtles. Our results suggest that differences in the feeding ecology of eastern Pacific hawksbills in mangrove estuaries may make them less likely to accumulate persistent organic pollutants and heavy metals in their blood. These baseline data on blood values in hawksbills nesting within a mangrove estuary in the eastern Pacific offer important guidance for health assessments of the species in the wild and in clinical rehabilitation facilities, and underscore the importance of preventing contamination from point and non-point sources in mangrove estuaries, which represent primary habitat to hawksbills and myriad other marine species in the eastern Pacific Ocean.

zoology↗

The Impact of Education on Myopia: A bidirectional Mendelian randomisation analysis in UK Biobank

Myopia, or short-sightedness, is one of the leading causes of visual disability in the World. The prevalence of myopia has risen steadily over recent decades, reaching epidemic levels in Southeast Asia. Observational studies have reported associations between educational attainment and myopia. Whether education causes myopia, myopic children are more intelligent, or another factor, like higher socioeconomic status, causes both is unclear since observational studies are prone to confounding and randomised trials of education are unethical. Using bidirectional Mendelian Randomisation, a form of instrumental variable (IV) analysis free from confounding, we show that every additional year in education leads to an increase in myopic refractive error, but that myopia does not lead to higher educational attainment. Our results suggest that current educational methods contribute to the global burden of myopia, and argue that educational policies and practices should take account of this to reduce future visual disability in the population.

epidemiology↗