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Machine learning-assisted plasma PEA proteomics enables differential diagnosis of melancholic depression and bipolar disorder.

Differentiating bipolar disorder (BD) from major depressive disorder (MDD) remains a critical unmet need in psychiatry due to overlapping clinical presentations and the absence of reliable biological markers. In this study, we assessed the capacity of multivariate machine learning models to accurately differentiate BD from MDD with melancholic features using plasma proteomic profiles obtained via Proximity Extension Assay (PEA) technology. A total of 67 participants were included (23 BD, 20 MDD, and 24 HC), and plasma protein expression was assessed using the Olink Target 96 Neurology panel. Differential proteomic analysis revealed distinct disorder-specific expression patterns, identifying 21 differentially expressed proteins in BD versus MDD, 18 in BD versus healthy controls, and 7 in MDD versus healthy controls. Using a stepwise feature reduction strategy, machine learning models were trained on three feature sets comprising all proteins, the top 20 most informative proteins, and the top 5 most beneficial proteins, and evaluated across BD-MDD, BD-HC, and MDD-HC classification tasks using five algorithms. For BD-MDD discrimination, the Random Forest model achieved the highest performance when trained on the top 5 protein set (LXN, HAGH, MATN3, PLXNB1, and CTSC), yielding an AUC of 0.905, with similarly strong performance observed using the top 20 protein set. Feature importance analysis highlighted proteins involved in neurodevelopmental processes, immune regulation, and extracellular matrix organization. Overall, these findings demonstrate that integrating plasma proteomics with machine learning enables robust differentiation between BD and MDD with melancholic features, supporting the development of scalable and biologically informed diagnostic tools for precision psychiatry.

Bipolar disorder↗

Impact of transfection optimization on adeno-associated virus purification performance and vector quality.

Recombinant adeno-associated virus (rAAV) has shown great promise as a viral vector for gene therapy. However, efficient manufacture of high-quality rAAV to meet clinical demands remains challenging. Here, we optimized rAAV production via a design of experiments (DoE) approach to evaluate the effects of five transfection parameters on vector genome titer, full particle ratio (FE ratio), and viral protein (VP) stoichiometry. The DoE model showed that no single set of transfection conditions could maximize all three responses simultaneously. Subsequently, the materials from DoE-optimized transfections were purified by affinity chromatography followed by anion exchange chromatography (AEX). We observed that AEX recovery declined when capsid loading was high, a situation caused by the combination of high titer with low FE ratio, reducing some of the gains in titer achieved by transfection optimization. Furthermore, AEX had limited capacity to enrich full particles from materials with a very low initial FE ratio. Finally, materials from DoE-optimized transfections showed improved transduction efficiency, which was associated with the ratios of VP1 and VP2 to total VP in the capsid. Overall, this study demonstrates that transfection-derived quality attributes affect purification outcomes and overall vector quality. Our findings highlight the necessity of strategically balancing multiple quality attributes during transfection optimization and provide insights for integrated upstream transfection and downstream purification development.

Adeno-associated virus↗

Long-term seizure outcomes and factors associated with response to adjunctive everolimus in TSC-associated epilepsy.

BACKGROUND: Everolimus, a mechanistic target of rapamycin (mTOR) inhibitor, is increasingly used in tuberous sclerosis complex (TSC)-associated epilepsy; however, long-term real-world outcomes and factors associated with favorable response remain unclear. This study aimed to evaluate the long-term seizure outcomes of adjunctive everolimus and explore clinical factors associated with treatment response. METHODS: We retrospectively recruited 21 patients with active TSC-associated epilepsy receiving adjunctive everolimus and assessed seizure outcomes during follow-up. Clinical characteristics were compared between responders and non-responders at 1 year after treatment initiation. RESULTS: Over a median treatment duration of 72 months, responder rates ranged from 53.8% to 64.7%, and seizure-free rates ranged from 33.3% to 41.2%. Responders had fewer involved organ systems at baseline (median 3 vs. 4, p = 0.020) and lower anti-seizure medication burden (median 2 vs. 4, p = 0.045). Younger age at treatment initiation showed a trend toward improved response. CONCLUSION: Adjunctive everolimus was associated with sustained long-term seizure reduction in this real-world cohort. In exploratory analyses, fewer involved organ systems and fewer baseline ASMs were associated with favorable treatment response. These findings require validation in larger prospective cohorts.

Epilepsy↗

An atlas of non-redundant sequences and structures of transcription factor assemblies across domains of life.

Transcription factors (TFs) regulate gene expression by controlling the recruitment of transcriptional machinery to regulatory regions of the genome. Nearly 10% of the human genome encodes TFs, making them one of the largest protein families. Despite their central roles in gene regulation, TFs are historically considered challenging therapeutic targets due to their complex interactions with DNA, RNA and associated proteins. Although recent progress in studying TFs both at molecular and structural level excels our understanding on their function, yet a universal rule decoding their recognition process remains elusive. Here, we present a curated non-redundant dataset of TFs with 3570 sequences and 377 structures. We further characterize "unique interfaces" by quantifying interface identity across interacting chains in TF assemblies. Surprisingly, our data shows that the "unique interfaces" have optimal size ranging from 2000 Å2 to 4000 Å2 irrespective of their quaternary assembly. To understand the functional diversity, we integrate sequence motifs, structural domains, subcellular localization and functional enrichment of TFs. We have also catalogued association of TFs with various human diseases. Our dataset provides a comprehensive platform to perform large scale analysis of TF-assemblies and aid in computational methods for their prediction across domains of life.

Gene regulation↗

An Application of Iterative Health Economic Evaluation: An Update on the Early Cost Effectiveness of Whole-Genome Sequencing in Advanced Non-small-Cell Lung Cancer.

OBJECTIVE: Whole genome sequencing (WGS) can identify more druggable targets than the standard of care (SoC) panels, however, its health effects and costs are highly uncertain. Given the rapidly evolving treatment landscape and pricing, an iterative approach is crucial to continuously reassess evidence and adapt economic models. Our objective was to update a previously developed economic model for WGS. METHODS: We used a structured approach to identify and report model elements requiring updates, based on established tools and methodological guidance, and applied it to the probabilistic decision model by Simons et al.(2021), which compared SoC, WGS, and SoC followed by WGS in patients with inoperable stage IIIB, C/IV NSCLC in the Dutch setting. RESULTS: Updates included a new treatment (sotorasib), revised drug and diagnostic costs, and adherence to the latest guidelines. Drug and WGS diagnostics costs fell by 8% and 26%, respectively. SoC diagnostic prices increased by 17%. We explored the impact of the prevalence of druggable targets, effectiveness of off-label treatments, (academic-specific) diagnostic costs, and price negotiations. The ICER of WGS versus SoC decreased from €737,197 to €419,053/QALY. WGS would become cost-effective if diagnostic costs descended from €2,180 to €1,246 or if additional druggable targets were identified in ≥3.3% of patients. CONCLUSION: Our structured approach effectively identified items in the original analysis requiring updates and provides a foundation for further developing a checklist to guide iterative HTA. Continued monitoring and assessment of new treatment options, the dynamic diagnostics and costs throughout the life-cycle remain necessary to determine when WGS can be considered cost-effective.

NSCLC↗

Mapping cell-type- and age-dependent neuronal vulnerability through genome-wide in vivo CRISPRi screens in the mouse brain.

Current brain atlases are largely descriptive, cataloging correlative molecular snapshots such as gene expression signatures yet offering limited functional insight. Here, we develop a scalable, cell-type-resolved in vivo CRISPR interference (CRISPRi) platform enabling systematic gene function profiling in the mouse brain. Through genome-wide screens across four neuronal populations at three time points spanning youth to aging, we identify neuronal essential genes missed in vitro and define a consensus set of 269 neuronal core essential genes. The data reveal cell-type-specific genetic vulnerabilities, including divergent dependencies validated for exosome component 9 (Exosc9) and osteopetrosis-associated transmembrane protein 1 (Ostm1) between excitatory and inhibitory neurons. We uncover aging-specific dependencies enriched in mitochondrial and translational pathways, aligning with transcriptional changes in the aging human brain. Finally, we establish the CRISPRinvivo data portal as a community resource for in vivo screening. Altogether, this work provides a broadly applicable platform for in vivo functional genomics and a framework for building comprehensive gene-function brain atlases.

brain aging↗

Experimental workflows for the accurate identification of mitochondrial redox events.

The study of redox biology has been growing constantly since the last decades. Over these years, redox processes have been linked to an extraordinarily wide range of physiological and pathological events, becoming recognized as central mechanisms underlying many of them. In this context, it becomes essential to understand the advantages and limitations of the tools under use, to recognize the specific controls required for each measurement and to accurately distinguish between distinct redox mechanisms. So far, multiple and excellent reviews have dealt with either the tools, the protocols or the mechanisms involved in reactive oxygen species (ROS) production and quenching, a.k.a. redox events. However, a review outlining the workflows to appropriately detect them is still lacking. We define workflow as the combination of tools, methods and mechanistic knowledge that allow the definition of a specific redox event. In this review, we aim to provide an optimal workflow for the research on mitochondrial redox events. To this end, we first summarize the molecular tools available to measure and quench ROS. We then explain the mechanisms of ROS production and scavenging in several of the cellular compartments, with special focus on mitochondria, as well as their implication in physiology and disease. Finally, we use the knowledge in all sections to build a recommended experimental workflow, illustrated by several cases of study. This review will enable the reader to understand how specific mitochondrial redox events can be accurately measured, considering all technical, methodological and mechanistical variables and limitations required for their reliable detection and interpretation.

(Patho)physiology↗

Whole genome characterisation of Australian and New Zealand OsHV-1 'μVar' like variants over time.

Ostreid herpesvirus 1 (OsHV-1) is a major pathogen of Pacific oysters (Magallana gigas), linked to mass mortality events worldwide and presents a substantial threat to global aquaculture. Since 2010, mortality events have been occurring in Pacific oysters within Australia with the cause being an OsHV-1 microvariant highly similar to OsHV-1 μVar first detected in France, 2008. In this study, fifteen OsHV-1 whole genomes were assembled from Australian and New Zealand mortality events, including twelve newly sequenced genomes and three assembled from public datasets. Whole-genome phylogenetic analyses indicate that Australian and New Zealand OsHV-1 isolates form a distinct clade, separate from European and East Asian genomes, and with moderate regional and temporal divergence across the past 14 years. Across the dataset, multiple biologically relevant mutations were observed in genes of known function, including DNA polymerase, ribonucleotide reductase subunits, and apoptosis-related proteins, though most mutations occurred in uncharacterised genes. These findings highlight the limitations of single-gene typing and support the need for whole-genome approaches in understanding OsHV-1 evolution. Critically, the lack of recent whole-genome data, particularly from East and Southeast Asia, restricts the ability to trace viral origins and detect novel variants, underscoring the need for expanded global OsHV-1 genomic surveillance.

Australia↗

Stressed-out immune cells.

Connections between chronic stress, inflammation, and human diseases are well-established but poorly understood. In this issue of Cell Genomics, the effects of stress hormones on the immune system are investigated using single-cell RNA sequencing to better understand how stress-regulated immunological signaling contributes to disease.

Humans↗

Jingjing Zhai and Edward S. Buckler.

Dr. Laura Zahn asked the authors, Dr. Jingjing Zhai and Dr. Edward (Ed) S. Buckler, to tell us about their research relating to their Cell Genomics paper, "PlantCAD2: A DNA foundation model for interpreting genomes across flowering plants."

Genomics↗

Pouria Salehi Nowbandegani.

Dr. Laura Zahn asked Dr. Pouria Salehi Nowbandegani about their study, "Defining and cataloging variants in pangenome graphs," and how they came to study this aspect of genomics.

Humans↗

The Jumonji C domain-containing proteins GmJMJ19 and GmJMJ20 link florigen signaling with epigenetic regulation of photoperiodic flowering and post-flowering plant height in soybean.

Soybean (Glycine max) is a photoperiod-sensitive legume whose latitudinal adaptation depends on the precise control of flowering time and plant height. Histone demethylases of the JmjC domain-containing (JMJ) protein family have been implicated in these processes across plant species, but their specific roles in soybean remain largely unexplored. Here, we identify soybean GmJMJ19 and GmJMJ20, two closely related JMJD5/KDM8 orthologs, as master epigenetic regulators that coordinately control both photoperiodic flowering and post-flowering plant height. Both genes exhibit intrinsic, rhythmic expression peaking at ZT12, and their encoded proteins physically interact with the florigen proteins FT2a and FT5a. Loss-of-function mutants display delayed flowering under long days (LDs) and increased plant height under both LDs and short days (SDs), whereas overexpression phenocopies the mutant flowering phenotype, indicating revealing a critical dosage requirement for proper function. Mechanistically, GmJMJ19 and GmJMJ20 are recruited by the FT/FD transcriptional complex to directly activate AP1a and AP1c expression through chromatin modulation. Population genomic analyses reveal distinct selection signatures: GmJMJ19 underwent sustained directional selection during cultivation, whereas GmJMJ20 experienced an early domestication sweep with limited subsequent change. Haplotype analysis identifies coordinated latitudinal clines, with the JMJ19H1/JMJ20H1 combination predominating at high latitudes to promote early flowering and limit height, while JMJ19H2/JMJ20H2 and wild JMJ19H3/JMJ20H3 alleles prevail at low latitudes, conferring later flowering and increased height. Collectively, our findings establish GmJMJ19 and GmJMJ20 as central chromatin regulators linking florigen signaling to downstream target expression and provide valuable allelic resources for breeding regionally adapted soybean varieties across a wide range of latitudinal environments.

Histone modulation↗

Ovarian expression and function of neuropeptide systems in teleosts and anurans.

The hypothalamic-pituitary-gonadal axis regulates reproduction, sexual maturation, and spawning behaviours. Its evolutionary origins trace back to primitive jawless fish and has been well characterized in teleosts. Recent advances in multi-species genome sequencing, annotation, and experimental approaches for identifying and characterizing key regulators have advanced understanding of neuroendocrine regulation in teleost reproduction, reshaping existing models. Early studies in amphibians established that steroids are critical regulators of final oocyte maturation. Subsequent work in anurans revealed complex interactions among theca cells, follicular cells, and oocytes, supporting a three-cell model in which oocytes contribute to their own steroidogenic environment, challenging the traditional two-cell view of ovarian steroidogenesis. In teleosts, however, direct evidence that oocytes support steroid precursor delivery to theca and follicular cells is limited, and whether a comparable three-cell model applies remains an open hypothesis. Across both taxa, the roles of locally produced neuropeptides in coordinating interactions among theca cells, follicular cells, and oocytes remain largely uncharacterized. Here, we provide a short review of the localization and potential autocrine/paracrine functions of neuropeptides in teleost and amphibian ovaries and discuss existing knowledge gaps. We identify opportunities to leverage detailed localization studies that map neuropeptides to specific ovarian cell types and developmental stages, and discuss how integrating traditional and emerging experimental approaches can advance comparative studies in ovarian endocrinology. This work will improve our understanding of reproductive regulation in fishes and frogs, with applications in captive breeding, aquaculture, and endocrine disruption research.

Autocrine↗

Whole-genome sequencing identifies a c.1282C > T missense variant in Taurine Transporter (TauT) associated with taurine-mediated dilated cardiomyopathy in a family of domestic shorthair cats.

Taurine is a cytoprotectant amino acid critical for a variety of cellular functions, including cell volume and intracellular calcium regulation, bile salt formation, free radical protection, and mitochondrial biogenesis. In most mammals, taurine is synthesized via methionine transsulfuration; albeit, in cats, taurine biosynthesis is blunted due to low enzymatic activity of their encoded cysteine sulfonic acid decarboxylase and, therefore, is an essential amino acid in the species. Taurine deficiency in cats results in retinopathy, coagulopathy, growth retardation, impaired immunological function, and most notably dilated cardiomyopathy (DCM). A three-year-old domestic shorthair cat was evaluated for vomiting, anorexia, and lethargy. Severe dilated cardiomyopathy and taurine deficiency were identified, despite eating a commercial, nutritionally balanced, diet with adequate taurine concentrations. A whole-genome association study (WGAS), under the assumptions of an incomplete dominance mode of inheritance (MOI), was performed on this case and two related cats with mild taurine and echocardiographic abnormalities (i.e., queen and littermate) compared to 18 previously whole-genome sequenced echocardiographically-normal geriatric controls (>10 years-of-age; n = 21). A 'MODERATE' c.1282C > T; p.Arg428Trp variant harbored in Solute Carrier Family 6 Member 6/Taurine Transporter (SLC6A6/TauT) was identified. The variant segregated to the postulated MOI and was not observed in any of the control or in an expanded population of cats (n = 422). Functional analyses involving wildtype and mutant SLC6A6 overexpression in HEK293-derived cells revealed marked reduction in cellular taurine uptake and decreased plasma membrane expression in those harboring the c.1282C > T variant. This represents the first-ever reported genetic variant explaining taurine deficiency in any domestic animal species.

Dilation↗

Development of a multi-copy integration platform in Kluyveromyces marxianus enabled by a computational method for genome-wide identification of multi-copy integration loci.

Multi-copy integration is a core strategy for redirecting metabolic flux toward target compounds. However, its application has been hampered by the absence of methods for systematically identifying native multi-copy genomic loci. To overcome this, we developed a computational procedure for genome-wide identification of such loci. Theoretically, this method is potentially applicable to any genome-sequenced species as it only requires the genomic assembly of the target species as input. Applying the procedure to Kluyveromyces marxianus, we identified four groups of loci (KmCS1-4). Combining these loci-KmCS1-4 and the traditional 26S rDNA-with 14 markers with graded selection strengths, we established a versatile multi-copy integration toolkit comprising 70 plasmids. Each plasmid exhibits a unique integration pattern, collectively forming an integration profile. This profile serves as a manual, enabling users to select appropriate tools tailored to the expression requirements of rate-limiting enzymes in their pathways. Applying representative plasmids exhibiting low-, medium-, and high-copy integration patterns to lycopene biosynthesis modules resulted in lycopene titers of 3.5, 6.8 and 40.5 mg/L, corresponding to 2, 6 and 9 genomic copies, respectively, demonstrating a positive correlation between lycopene titers, genomic copy numbers and integration patterns, which highlights the versatility of the toolkit and its supporting manual. Our study not only provides a broadly applicable methodology for genome-wide identification of multi-copy loci, but also an efficient integration platform for K. marxianus.

Kluyveromyces marxianus↗

Cost-effectiveness analysis of a virtually administered pain coping skills training intervention in women with breast cancer in underserved areas.

OBJECTIVES: Women with cancer who live in medically underserved areas could benefit from behavioral pain interventions, but access is limited. A randomized trial reported that a 4-session virtual program incorporating pain coping skills training (mPCST) was effective in improving pain outcomes compared to an attention-control condition. We performed a cost-effectiveness analysis of mPCST vs. control. METHODS: Data on medical resource use, therapist time, and participants' attendance at intervention sessions and time associated with travel and using a mobile app were collected. The 5-level EuroQol 5-Dimension (EQ-5D-5L), a preference-weighted measure of health-related quality of life (HRQOL), was administered at baseline, after the intervention period, and 3 and 6 months later. Medicare payments were used to value medical resource use and therapist time to deliver mPCST. Patient time was valued using the average US wage. RESULTS: Medical resource utilization was similar for both groups, but hospitalizations trended higher in the mPCST group. EQ-5D-5L preference weights were higher by an average of 0.066 (p = 0.04) with mPCST across the follow-up period, representing an incremental gain of 0.04 quality-adjusted life years (QALYs) (95% CI: 0.00-0.08). When including the base-case cost of mPCST of \$500 vs. \$0 for the control group, the incremental cost-effectiveness ratio (ICER) was \$12,725 per QALY (95% CI: 5,566-69,343). Including the value of patient time added \$303 to mPCST costs resulting in an ICER of \$20,438 per QALY (95% CI: 9,051-111,403). SIGNIFICANCE OF RESULTS: mPCST is a cost-effective program that improves HRQOL for women with cancer living in medically underserved areas.

Humans↗

Implementation outcomes of a dementia-focused intervention for family care partners and clinicians in home hospice care.

OBJECTIVES: End-of-life care for persons living with dementia in home hospice relies heavily on coordination between family care partners (FCPs) and clinicians (e.g., hospice social workers and nurses). FCPs and clinicians have reported support and knowledge gaps in end-of-life dementia care. Interventions are needed to improve FCPs' support and clinicians' educational gaps. METHODS: A pilot randomized controlled trial was designed to examine implementation outcomes for a dementia-focused end-of-life intervention for FCPs (n = 37) and clinicians (n = 15). Data on survey completion and acceptability were collected at baseline, during 4 follow-up visits, and at the conclusion of the study. RESULTS: Twenty-eight (75%) caregivers completed the post-study survey, and 10 (27%) reported using the structured worksheet. Thirteen (87%) clinicians completed the post-training survey, 8 (53%) completed the post-study survey, and 8 (100%) used the worksheet. Clinicians (n = 8) were satisfied or highly satisfied with the instructional videos, and half (50%) used the information frequently with patients. Both groups reported the worksheet helpful, easy to use, and satisfactory, though clinicians rated helpfulness slightly higher (mean = 3.88 vs. 3.70 for FCPs). Clinicians liked the worksheet's structured guidance and the enhanced collaboration. SIGNIFICANCE OF RESULTS: This study provides preliminary evidence for implementation outcomes of a dementia-focused end-of-life intervention in home hospice. Findings suggest the intervention can be implemented in a hospice setting, with moderate worksheet uptake and perceived value among FCPs and clinicians.

Humans↗

Adolescent depression as a systemic multimorbidity catalyst: integrated genetic and metabolic pathway analysis.

BACKGROUND: Although adolescent depression has been linked to individual chronic conditions, its broader role in shaping multimorbidity risk remains understudied. METHODS: A total of 87,562 UK Biobank participants were included, of whom 18,851 had documented adolescent depression. Cox proportional hazards models were applied to evaluate associations between adolescent depression and 24 chronic diseases, followed by stratified analyses by sex and age. Two-sample Mendelian randomization (MR) was then conducted to infer causality for diseases showing significant associations. Genomic colocalization analyses were performed using relevant GWAS data to identify shared causal variants. Mediation analyses were performed to detect possible mediating factors, including the frailty index, KDM biological age acceleration, allostatic load and 30 circulating biomarkers. RESULTS: Adolescent depression was associated with elevated risk for 12 chronic diseases, with strongest associations for hypothyroidism (HR = 1.29 [1.18-1.42]), diabetes (HR = 1.25 [1.13-1.38]) and chronic obstructive pulmonary disease (COPD) (HR = 1.74 [1.50-2.01]). Risks were notably higher among females and younger adults. MR confirmed likely causal relationships for hypothyroidism (OR = 1.45 [1.03-2.05]), diabetes (OR = 1.01 [1.01-1.02]) and COPD (OR = 1.04 [1.02-1.06]). Genomic colocalization revealed a shared genetic signal at the CDSN/PSORS1C1 locus between adolescent depression and hypothyroidism. Mediation analyses revealed disease-specific pathways: creatinine for hypothyroidism, testosterone for diabetes, KDM biological ageing for COPD and frailty index across all three conditions. CONCLUSIONS: Adolescent depression confers systemic vulnerability through genetic and metabolic mechanisms, with amplified risks in females and individuals aged ≤55 years. These findings support early, integrated interventions to mitigate long-term multimorbidity.

Humans↗