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PubMed2026

Mapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinson's disease.

The molecular pathways linking genetic variants to Parkinson's disease (PD) onset and progression remain incompletely defined; however, risk alleles in multiple genes, including GBA1, strongly implicate lipid metabolism. To systematically identify causal biomarker signatures, we analysed comprehensive metabolome profiles from blood plasma in 149 PD patients and 150 controls, along with complementary genetic, RNA-sequencing and metabolic data from other available clinical and pathologic cohorts. Using colocalization and summary-data-based Mendelian randomization, we tested whether expression and metabolic quantitative trait loci mediate the association between implicated genetic variants and PD risk. We further integrated differential metabolomics and proteomics from blood and brain to reveal pertinent mechanisms. We show that common PD risk variants at the serine palmitoyltransferase small subunit B (SPTSSB) locus, a key regulator of de novo sphingolipid biosynthesis, are associated with increased SPTSSB brain expression and elevated plasma ceramides. Additional analyses strongly support our hypothesis that a common SPTSSB causal variant is responsible for PD risk as well as the expression and metabolic quantitative trait loci. Multiple sphingolipids and fatty acid derivatives were perturbed in PD, and we identified both unique and shared features with the Alzheimer's disease metabolome. A PD acylcarnitine signature was further replicated in human post-mortem brain tissue, when comparing those with or without preclinical Lewy body pathology. Integrated analysis of complementary brain proteomic profiles revealed dysregulation of mitochondrial processes dependent on acylcarnitines, including fatty acid beta-oxidation, the tricarboxylic acid cycle and oxidative phosphorylation. Our results identify promising biomarkers and reveal a causal chain linking genetic variation to altered gene/protein expression, lipid dysmetabolism, and the manifestation of PD.

Humans↗
PubMed2026

Phylotranscriptomics Allows Distinguishing Major Gene Flow Events from Incomplete Lineage Sorting in Rapidly Diversifying Mimetic Orchids (Genus Ophrys).

Ophrys orchids (or bee orchids) provide an outstanding example of a plant adaptive radiation. Over the last 5 million years, this genus has diversified into hundreds of taxa as a result of its unconventional pollination strategy, known as "sexual swindling". However, the rapid and substantial diversification of this genus, combined with its capacity for hybridization and large genome size, poses significant challenges in addressing its systematics. We used phylotranscriptomics as a genome complexity reduction technique to infer the phylogenetic relationships among Ophrys main lineages. More than seven thousand gene trees enabled us to determine the relative contributions of gene flow and incomplete lineage sorting (ILS) in Ophrys evolution. First, we propose a new phylogenetic hypothesis for the genus with an unprecedented resolution that largely confirms the relationships between the main Ophrys lineages, but also provides new insights within each subgenera. By combining phylogenetic network inference with introgression analyzes based on gene tree topologies and branch lengths, we then show that the numerous phylogenetic incongruences among gene tree topologies result from a pervasive background of ILS, over which stand out several well-supported, ancient and potentially adaptive gene flow events between lineages. These major gene flow events provide a new perspective on the evolution of the Ophrys genus and its pollination, questioning previous hypotheses inferred without considering its reticulate evolution, and providing a better understanding of discrepancies observed among previous phylogenetic studies of the genus.

Orchidaceae↗
PubMed1977

Occupational eczema from N-isopropyl -N'-phenylparaphenylenediamine (IPPD) and N-dimethy-1,3 butyl-N'-phenylparaphenylenediamine (DMPPD) in tyres.

Forty-two cases of contact sensitivity to N-isopropyl-N'-phenylparaphenylenediamine (IPPD), an amine antiozonant used in rubber manufacture, were collated from several firms and plants dealing with tyres. Ten motor car tyres manufactured by eight different firms all induce sensitivity reactions in seven subjects allergic to IPPD. Clinical cross-reaction tests show that 100% of the subjects sensitive to IPPD are also sensitive to N-phenyl-N'-cyclohexy-paraphenylenediamine (CPPD), another amine antiozonant, and 37% to paraphenylenediamine (PPD). The various types of tyres were analyzed by gas chromatography and then by infra-red and thin-layer chromatography where necessary. None of the 12 tyres examined was found to be free from aromatic amines. Test reactions carried out with various automobile accessories on subjects allergic to IPPD in tyres gave positive results precisely in those cases where the articles contained IPPD. The authors then studied occupational sensitivity to N-dimethyl-1,3 butyl-N'-phenylparaphenylenediamine (DMPPD), a rubber antiozonant purported to be non-sensitizing and marketed in the United States. The The DMPPD tests were positive for all the IPPD-allergic patients tested; there is no doubt as to the allergenic nature of DMPPD. The irritant and sensitizing potentials of the four amines in question were tested in laboratory animals: PPD proved to be the most allergenic product, IPPD the least allergenic, and DMPPD and CPPD seem to give identical results. All these products produce positive cross-reactions in varying degrees of severity.

Animals↗
PubMed2026

PKMYT1 is a targetable vulnerability in del(17p) high-risk multiple myeloma.

Deletion of chromosome 17p [del(17p)] is among the most adverse cytogenetic abnormalities in multiple myeloma (MM). By integrating RNA sequencing data from cells of patients with MM with genetic dependency data from MM cell lines, we identified protein kinase membrane-associated tyrosine/threonine 1 (PKMYT1), a member of the WEE family, as a potential therapeutic target in MM cells harboring del(17p). Genetic suppression or pharmacological inhibition of PKMYT1 activity with the selective inhibitor RP-6306 triggered accumulation of DNA damage, micronucleus formation, and mitotic catastrophe, resulting in preferential cell death in del(17p) MM cells while largely sparing del(17p)- MM cells and healthy cells. RP-6306 also reduced tumor burden and extended survival in vivo in both xenograft and TP53-deficient syngeneic models. Collectively, our findings nominate PKMYT1 as an actionable target and support PKMYT1 inhibition as a biomarker-driven therapeutic strategy for patients with del(17p) or TP53-deficient MM.

Humans↗
PubMed2026

Quizartinib for patients with newly diagnosed FLT3-ITD-positive AML who received maintenance therapy in QuANTUM-First.

QuANTUM-First demonstrated improved overall survival (OS) in patients with newly diagnosed acute myeloid leukemia with FMS-like receptor tyrosine kinase 3-internal tandem duplication (FLT3-ITD) treated with quizartinib + standard chemotherapy. Herein, we evaluated the impact of postconsolidation/posttransplant single-agent maintenance therapy on clinical outcomes in patients receiving maintenance, focusing on measurable residual disease (MRD) status at maintenance onset. OS, event-free survival, and relapse-free survival were prespecified exploratory analyses. Cumulative incidence of relapse, analyses by allogeneic hematopoietic cell transplant (allo-HCT), and analyses by MRD status were post hoc and not powered for statistical significance. Samples for FLT3-ITD MRD analysis were collected from patients with composite complete remission ≤30 days before receiving maintenance and assessed using an ultrasensitive amplicon-based assay. More patients who had received an allo-HCT and quizartinib treatment received maintenance (71%) vs placebo (55%); OS benefit was not demonstrated among these patients. In patients who did not undergo allo-HCT, quizartinib maintenance was associated with a significant OS benefit (hazard ratio [HR], 0.401; 95% confidence interval [CI], 0.192-0.838), including a benefit in patients who were MRD negative at the start of maintenance (OS HR, 0.194; 95% CI, 0.056-0.676). Patients who were MRD negative at the completion of consolidation achieved 89.1% (95% CI, 70.0-96.4) survival at 3 years with quizartinib maintenance in the absence of allo-HCT. These data suggest that for patients who achieve FLT3-ITD MRD negativity after induction and consolidation with quizartinib, maintenance with quizartinib provides a significant survival benefit and, in some patients, may eliminate the need for allo-HCT. This trial was registered at www.clinicaltrials.gov as NCT02668653.

Humans↗
PubMed2025

A comprehensive atlas of full-length Arabidopsis eccDNA populations identifies their genomic origins and epigenetic regulation.

Extrachromosomal circular DNA (eccDNA) has been described in several eukaryotic species and has been shown to impact phenomena as diverse as cancer and herbicide tolerance. EccDNA is thought to arise mainly through transposable element (TE) mobilization. Because studies based on short-read sequencing cannot efficiently identify full-length eccDNA forms generated from TEs, we employed the CIDER-Seq pipeline based on long-read sequencing, to obtain full-length eccDNAs from Arabidopsis. The generated eccDNA datasets identified centromeric/pericentromeric regions as hotspots of eccDNAs with several eccDNA molecules originating from Helitron and LTR TEs. To investigate the role of epigenetic marks on TE-derived eccDNA biogenesis, we studied Arabidopsis methylation mutants dcl3, rdr6, ros1, and ddm1. Contrasting the TE-suppression previously reported in the hypermethylated ros1 mutants, we identified activation of TEs in ros1, specifically of LTR/Gypsy TEs. An enrichment of LTR/Copia elements was identified in actively dividing calli and the shoot apical meristem (SAM). Uncharacterized "variable TEs" with high eccDNA and expression were identified in the SAM, including ATCOPIA58. Together, our study reveals the genomic origins of eccDNAs and delineates the link between epigenetic regulation, transposon mobilization, and eccDNA biogenesis.

Arabidopsis↗
PubMed2025

Broad geographical circulation of a novel vesiculovirus in bats in the Mediterranean region.

Bats are the natural reservoirs for a variety of emerging and re-emerging viruses. Among them, rabies virus (genus Lyssavirus, family Rhabdoviridae) is one of the first and most emblematic described in these animals. Since its first description, several new bat lyssaviruses have been regularly identified. In addition to lyssaviruses, other bat rhabdoviruses have also been discovered, including members of the genera Vesiculovirus, Ledantevirus and, more recently, Alphanemrhavirus and Tupavirus. However, the family Rhabdoviridae is one of the most abundant and diverse viral families, with 434 officially recognized species, divided into 5 subfamilies and 56 different genera. The number of rhabdoviruses associated with bats is therefore probably higher than that currently available. In this study, we first developed and validated a combined nested RT-qPCR technique (pan-rhabdo RT-nqPCR) dedicated to the broad detection of animal rhabdoviruses. After validation, this technique was used for a large retrospective screening of archival bat samples (n = 1962), including blood (n = 816), brain (n = 723) and oral swab (n = 423). These samples were collected from various bat species over a 12-year period (2007-2019) in 9 different countries in Europe and Africa. A total of 23 samples (1.2%) from bat species Miniopterus schreibersii, Rhinolophus euryale and Rhinolophus ferrumequinum tested positive for rhabdovirus infection, including 17 (2.1%) blood and 6 (1.4%) oral swab samples, all collected from bats originating from the Mediterranean region. Complete virus genome sequences were obtained by next-generation sequencing for most of the positive samples. Molecular and phylogenetic analysis of these sequences demonstrated that the virus isolates, named Mediterranean bat virus (MBV), were closely related and represented a new species, Mediterranean vesiculovirus, within the genus Vesiculovirus. MBV was more specifically related to other bat vesiculoviruses previously described from China and North America, together clustering into a distinct group of bat viruses within this genus. Interestingly, our results suggest that MBV is widespread, at least in the western part of the Mediterranean region, where it circulates in the blood of several bat species. These results expand the host range and viral diversity of bat vesiculoviruses, and pave the way for further studies to determine the transmission route and dissemination dynamics of these viruses in bat colonies, as well as to assess their potential threat to public health.

Animals↗
PubMed2025

Molecular epidemiology of panton valentine leukocidin-producing Staphylococcus aureus infections, Djibouti, 2018-2023.

Between 2018 and 2023, a genomic study was conducted in a military camp in Djibouti to investigate the molecular epidemiology of Panton-Valentine Leukocidin-producing Staphylococcus aureus. Among 43 isolates, Sequence Type 152 was predominant (72%), mainly associated with spa types t355 and t4235. Core-genome Multi-Locus Sequence Typing revealed two concurrent transmission dynamics: localized inter-human outbreaks and repeated introductions from external sources. Comparative genomics with other African Sequence Type 152 isolates showed similar levels of diversity, suggesting a widespread continental dissemination. These findings highlight the importance of genomic surveillance to better understand and control the spread of this virulent lineage in Africa.

Leukocidins↗
PubMed2026

Biofilm formation during pneumococcal carriage imprints naturally acquired humoral immunity.

Streptococcus pneumoniae (Spn) colonization of the nasopharynx is a prerequisite for transmission and invasive disease. To investigate how repeated asymptomatic colonization shapes immunity and influences bacterial traits, we developed the Repeated Asymptomatic Murine Pneumococcal Colonization (RAMPC3) model using strains belonging to serotypes: 2 (D39), 3 (WU2), and 4 (TIGR4). Sequential colonization revealed strain- and exposure-order-dependent effects on bacterial burden, with initial colonization yielding robust carriage and subsequent exposures resulting in diminished burden and rapid clearance. Humoral profiling demonstrated antigenic imprinting: the first colonizing strain largely determined IgG and IgA specificity against bacterial proteins, with minimal diversification or expansion after repeated exposures. Reactivity was strongest for biofilm-associated antigens correlating with each strain's biofilm-forming capacity. Notably, experiments using human sera from naturally colonized adults mirrored these findings, with reactivity favoring biofilm antigens independent from capsule. Partial protection as result of colonization was demonstrated as triple-colonized mice had reduced mortality following pneumococcal pneumonia challenge. Likewise, mice colonized with biofilm deficient versions of TIGR4 and then challenged intratracheally with a serotype 6A (6A-10) strain were more likely to develop bacteremia, underscoring the contribution of the biofilm-associated host response to immunity. Finally, IgA responses in nasal-associated lymphoid tissue paralleled serum IgA patterns, validating systemic measurements as a proxy for mucosal immunity. These results reveal that biofilm formation during colonization is a key determinant of humoral immunity and contributes to systemic protection, providing insight into pneumococcal biology and informing strategies to design next-generation interventions.

Animals↗
PubMed2026

Novel insights into tomato leaf curl New Delhi virus introduction and evolution in Southeastern France using an advanced long-read sequencing workflow.

The Mediterranean population of tomato leaf curl New Delhi virus (ToLCNDV-ES) is characterized by a high genetic uniformity, distinguishing it from its Asian counterparts. ToLCNDV-ES is thought to have a monophyletic origin, likely resulting from a single recombination event, prior to its spread throughout the Mediterranean region. Following its first detection in southeastern France in 2020, ToLCNDV-ES re-emerged in France in 2022. Our analysis based on advanced long-read sequencing, circular DNA profiling, and phylogeny indicates both local persistence of French ToLCNDV-ES and multiple independent introduction events. Signatures of positive selection were identified in French ToLCNDV-ES populations, whereas no clear evidence of recombination was found. Bayesian time-structured phylogenetic analyses suggest that introductions in France occurred between 2018 and 2021 from the major ToLCNDV-ES clade, while several Italian ToLCNDV-ES isolates diverged prior to the virus introduction in the Mediterranean basin. Overall, this study demonstrates the value of an optimized long-read sequencing approach for resolving circular DNA virus diversity, and sheds light on the complex evolutionary history of ToLCNDV-ES in the Mediterranean Basin, particularly in southeastern France.

France↗
PubMed1977

[Allergic eczema due to textile pigment-supports].

A worker employed in a textile printing-shop showing a rebellious eczema on hands and forearms, was submitted to three series of patch-tests which disclosed a polysensitization to chromium, to formaldehyde, to the urea-formaldehyde resin and to some pigments (Helizarine BASF, Fluolac FMC). The chemical analysis of some of these pigments shows an interesting relation between allergenicity for a certain pigment and the presence of formaldehyde. Thus, it is an allergy to the pigment-support and not to the pigment itself.

Coloring Agents↗