Search bioRxiv⌕ Search

Biology subjects

Mali, I.

Publications and source records attributed to Mali, I..

4 recordsLinked to original sources

Unbiased preclinical phenotyping reveals neuroprotective properties of pioglitazone

Animal models are essential for assessing the preclinical efficacy of candidate drugs, but animal data often fails to replicate in human clinical trials. This translational gulf is due in part to the use of models that do not accurately replicate human disease processes and phenotyping strategies that do not capture sensitive, disease-relevant measures. To address these challenges with the aim of validating candidate neuroprotective drugs, we combined a mouse prion (RML scrapie) model that recapitulates the key common features of human neurodegenerative disease including bona fide neuronal loss, with unbiased and machine learning-assisted behavioural phenotyping. We found that this approach measured subtle, stereotyped, and progressive changes in motor behaviour over the disease time course that correlated with the earliest detectable histopathological changes in the mouse brain. To validate the utility of this model system, we tested whether the anti-diabetic drug pioglitazone could slow prion disease progression. Pioglitazone crosses the blood-brain-barrier and has been shown to reduce neurodegenerative disease severity in other mouse models. We found that in addition to significantly slowing the emergence of early-stage clinical signs of neurodegeneration, pioglitazone significantly improved motor coordination throughout the disease time course and reduced neuronal endoplasmic reticulum stress. Together, these findings suggest that pioglitazone could have neuroprotective properties in humans, confirm the utility of the scrapie mouse model of neurodegeneration, and provide generalisable experimental and analysis methods for the generation of data-rich behavioural data to accelerate and improve preclinical validation.

neuroscience↗

GLP1R agonists activate human POMC neurons

Drugs like semaglutide (a.k.a. Ozempic/Wegovy) that activate the glucagon-like peptide-1 receptor (GLP-1R) are a promising therapy for obesity and type 2 diabetes (T2D). Animal studies suggest that these drugs likely function by stimulating GLP-1R on appetite-suppressing neuron populations in the brain, but it is still unclear how they act to reduce food intake in humans. We therefore generated appetite-regulatory hypothalamic neurons from human pluripotent stem cells (hPSCs) to study their responses to GLP-1R agonists by calcium imaging and electrophysiology. We found that hPSC-derived proopiomelanocortin (POMC) and other hypothalamic neuron subtypes expressed GLP1R mRNA, and many of these neurons robustly responded to GLP-1R agonists by membrane depolarization, increased action potential firing, and extracellular calcium influx that persisted long after agonist withdrawal. The observed GLP-1R-induced response was likely mediated by the activation of PKA and L-type calcium channels, and led to significant changes in gene expression. These findings provide mechanistic insight into how GLP-1R agonists may suppress appetite in humans.

neuroscience↗

Profiling human hypothalamic neurons reveals a candidate combination drug therapy for weight loss

Obesity substantially increases the risk of type 2 diabetes, cardiovascular disease, and other diseases, making it a leading preventable cause of death in developed countries. It has a strong genetic basis, with obesity-associated genetic variants preferentially acting in the brain. This includes the hypothalamic pro-opiomelanocortin (POMC) neurons that inhibit food intake and are stimulated by drugs that agonise glucagon-like 1 peptide receptor (GLP1R) including Semaglutide (Ozempic/Wegovy). We therefore hypothesised that drugs which selectively activate human POMC neurons would suppress appetite and promote weight loss, and that focusing on drugs already approved for use would facilitate rapid clinical translation. We therefore generated POMC neurons from human pluripotent stem cells (hPSCs) and identified enriched genes that were genetically associated with obesity and targeted by approved drugs. We found that human POMC neurons are enriched in GLP1R, reliably activated by Semaglutide, and their responses are further increased by co-administration of Ceritinib, an FDA-approved drug potently and selectively inhibiting anaplastic lymphoma kinase (ALK). Ceritinib reduced food intake and body weight in obese but not lean mice, and upregulated the expression of GLP1R in the mouse hypothalamus and hPSC-derived human hypothalamic neurons. These studies reveal a new potential therapeutic strategy for reducing food intake and body weight, and demonstrate the utility of hPSC-derived hypothalamic neurons for drug discovery.

neuroscience↗

Pan-cancer proteomic map of 949 human cell lines reveals principles of cancer vulnerabilities

The proteome provides unique insights into biology and disease beyond the genome and transcriptome. Lack of large proteomic datasets has restricted identification of new cancer biomarkers. Here, proteomes of 949 cancer cell lines across 28 tissue types were analyzed by mass spectrometry. Deploying a clinically-relevant workflow to quantify 8,498 proteins, these data capture evidence of cell type and post-transcriptional modifications. Integrating multi-omics, drug response and CRISPR-Cas9 gene essentiality screens with a deep learning-based pipeline revealed thousands of protein-specific biomarkers of cancer vulnerabilities. Proteomic data had greater power to predict drug response than the equivalent portion of the transcriptome. Further, random downsampling to only 1,500 proteins had limited impact on predictive power, consistent with protein networks being highly connected and co-regulated. This pan-cancer proteomic map (ProCan-DepMapSanger), available at https://cellmodelpassports.sanger.ac.uk, is a comprehensive resource revealing principles of protein regulation with important implications for future clinical studies.

systems biology↗