bioRxiv Science⌕ Search

Biology subjects

Lundby, A.

Publications and source records attributed to Lundby, A..

6 recordsLinked to original sources

A Statistical Guideline for Analyzing Repeated-Measures Proteomics Data

Mass spectrometry-based proteomics increasingly supports study designs with repeated measurements, such as longitudinal sampling and spatial tissue profiling. These designs offer rich biological insights but introduce statistical challenges due to within-subject correlations and variance heterogeneity across time points or anatomical locations. Despite the growing use, best practices for analyzing repeated-measures proteomics data remain limited. We systematically compare commonly applied methods, including paired t-tests and linear mixed-effects models with correlation induced by random effects, to more flexible covariance-pattern models with unstructured covariance. Through simulation studies, we evaluate false-positive rates and statistical power under varying conditions of covariance heterogeneity. Our results demonstrate substantial limitations of conventional approaches and highlight the robustness and superior performance of unstructured covariance pattern models for repeated measures proteomics. This approach accommodates diverse study designs supporting accurate inference and reproducibility. We demonstrate that conventional F-tests can be severely biased, not just for small sample sizes but also moderately large ones, while using pairwise t-tests or applying parametric bootstrapping to evaluate the p-value of the F-tests mitigates the problem. We provide real world data examples showing how to perform valid and informative statistical analyses for temporal and spatial proteomics studies with repeated measurements.

bioinformatics↗

Beta-Adrenergic Stimulation and MYH7 G256E Mutant Gene Dosage Drive Hypertrophic Cardiomyopathy Phenotype Penetrance

AimsHypertrophic cardiomyopathy (HCM) is the most prevalent genetic heart disorder, characterized by significant phenotypic variability even among individuals with identical MYH7 mutations. This study aims to elucidate factors contributing to this variability and identify drivers of phenotype penetrance. We compared the baseline phenotypes of a highly penetrant MYH7 H251N mutation and the variably penetrant MYH7 G256E mutation and investigated the impact of adding beta-adrenergic stimulation and homozygosity on disease phenotype penetrance using cardiomyocytes from an isogenic line of human induced pluripotent stem cells (hiPSC-CMs). Methods and ResultsIsogenic hiPSCs with MYH7 H251N and MYH7 G256E mutations were generated using CRISPR/Cas9 technology and differentiated into cardiomyocytes (CMs). Single-cell RNA sequencing (scRNAseq) and functional analysis of contractile function revealed consistent HCM phenotype presentation in H251N CMs, whereas G256E CMs exhibited a subtle and more variable phenotype. Beta-adrenergic stimulation induced a distinct metabolic stress response in G256E CMs, characterized by impaired mitochondrial ATP upregulation. Increasing mutant gene dosage from hetero- to homozygosity led to consistent increase in hypertrophic and structural gene expression changes in G256E CMs at RNA and protein levels. These changes were distinct from the changes observed with stress response. Importantly, homozygous G256E CMs exhibited a hypercontractile functional and disorganized structural phenotype. Across multiple experimental conditions, we identified consistent increase in cardiomyocyte specific transcriptomic markers such as NPPB, APOE, PDLIM3 and ANKRD1. ConclusionsOur study highlights the use of a variably penetrant MYH7 mutation to investigate factors that influence HCM phenotype penetrance. Specifically, we found that mutant gene dosage and beta-adrenergic stimulation induce distinct HCM disease phenotypes, providing novel insights into mechanisms that may contribute to variable disease expression in HCM. Translational PerspectiveHCM is characterized by significant phenotypic variability, complicating both diagnosis and clinical management. This study explores the factors driving HCM phenotype penetrance using isogenic hiPSC-CMs with MYH7 mutations. We demonstrate that beta-adrenergic stimulation and increased mutant gene dosage significantly impact HCM disease penetrance. Beta-adrenergic stimulation triggers metabolic stress responses, while increased gene dosage leads to a hypercontractile and structurally disorganized phenotype. These findings provide insight into how specific modifiers can shape disease-associated phenotypes in HCM model systems. Graphical Abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=141 SRC="FIGDIR/small/729411v1_ufig1.gif" ALT="Figure 1"> View larger version (44K): org.highwire.dtl.DTLVardef@16a72d7org.highwire.dtl.DTLVardef@1999ca6org.highwire.dtl.DTLVardef@1fb8752org.highwire.dtl.DTLVardef@7148b2_HPS_FORMAT_FIGEXP M_FIG C_FIG

molecular biology↗

Coupling between acid-sensing ion channel 1a and the monocarboxylate transporter family shapes cellular pH response

Proton-mediated activation of acid-sensing ion channel 1a (ASIC1a) leads to influx of sodium and, to a lesser extent, calcium, followed by rapid and complete desensitization. However, various ASIC1a-expressing cell types display atypical proton-induced currents characterized by altered proton sensitivity and slow and incomplete desensitization. The origin of this functional diversity and its physiological relevance remain unclear. Here, we show that the monocarboxylate transporter 1 (MCT1) interacts with ASIC1a, leading to subtype-specific modulation of proton sensitivity and desensitization. We delineate the molecular mechanism of the ASIC1a-MCT1 coupling and find that the presence of MCT1 is required for the distinct ASIC1a-mediated currents observed in glioblastoma cells, the most lethal brain cancer in adults. Strikingly, presence of ASIC1a together with MCT1 significantly prolongs the lifespan of mice intracranially injected with glioblastoma cells. We thus uncover the basis for altered ASIC1a function in glioblastoma and highlight the importance of deciphering the cell-type specific ASIC1a interactome.

biophysics↗

Covariate balanced allocation of samples to batches to mitigate the impacts of technical variability.

Performing assays on large numbers of samples requires their analysis in distinct batches, which commonly affects the measurements made in a systematic way. Analytical approaches can correct for such batch effects, however for this to be possible the batch should not be confounded with either the independent variable or any covariates relevant to the analysis. Thus, how samples are distributed across batches influences subsequent analytic conclusions. We present SampleAllocateR, an open source tool that employs optimisation methods from machine learning to optimally allocate a preselected set of samples to experimental batches in a way that statistically balances specified covariates between batches. This results in better statistical estimates of the effect of not only the technical batch effects but also the other specified covariates upon the results of the experiment.

bioinformatics↗

Spatial-proteomics reveal in-vivo phospho-signaling dynamics at subcellular resolution

Dynamic change in subcellular localization of signaling proteins is a general concept that eukaryotic cells evolved for eliciting a coordinated response to stimuli. Mass spectrometry (MS)-based proteomics in combination with subcellular fractionation can provide comprehensive maps of spatio-temporal regulation of cells, but involves laborious workflows that does not cover the phospho-proteome level. Here we present a high-throughput workflow based on sequential cell fractionation to profile the global proteome and phospho-proteome dynamics across six distinct subcellular fractions. We benchmarked the workflow by studying spatio-temporal EGFR phospho-signaling dynamics in-vitro in HeLa cells and in-vivo in mouse tissues. Finally, we investigated the spatio-temporal stress signaling, revealing cellular relocation of ribosomal proteins in response to hypertonicity and muscle contraction. Proteomics data generated in this study can be explored through https://SpatialProteoDynamics.github.io.

systems biology↗

Proteomics dissection of cardiac protein profiles of humans and model organisms

The study of human cardiac pathologies often relies on research conducted in model organisms to gain molecular insight into disease and to develop novel treatment strategies; however, translating findings from model organisms back to human can present a significant challenge, in part due to a lack of knowledge about the differences across species in cardiac protein abundances and their interactions. Here we set out to bridge this knowledge gap by presenting a global analysis of cardiac protein expression profiles in humans and commonly used model organisms. Using quantitative mass spectrometry-based proteomics, we measured the abundance of ~7,000 proteins in samples from the separate chambers of human, pig, horse, rat, mouse and zebrafish hearts. This knowledgebase of cardiac protein signatures is accessible through an online database at: atlas.cardiacproteomics.com. Quantitative comparison of the protein profiles support the pig as model organism of choice for arrhythmogenic right ventricular cardiomyopathy whereas comparison of profiles from the two-chambered zebrafish heart suggests a better resemblance to the right side of mammalian hearts. This proteomics resource facilitates translational prospect of cardiac studies from model organisms to humans by enabling direct comparison of disease-linked protein networks across species.

systems biology↗