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Category: genetics – Page 3

Protein atlas connects the biological dots underlying neurodegenerative diseases

Neurodegenerative diseases form a tangled biological web with overlapping molecular signatures and symptoms. To decode this complexity, a multi-institute collaboration led by St. Jude Children’s Research Hospital scientists developed the pan-neurodegeneration atlas (PanNDA). The atlas is a comprehensive survey of neurodegenerative disease “proteomes” containing information about protein levels, modifications, and interactions. This resource, published today in Cell, provides a wide-ranging protein-based outlook to better understand the origins of neurodegenerative diseases and to aid in their diagnosis and treatment.

Neurodegenerative diseases often stem from protein misfolding or accumulation. These errors also disrupt binding partners, upstream and downstream effectors, and any connected pathways. By combining multiple proteomic strategies, co-corresponding authors Junmin Peng, Ph.D., St. Jude Departments of Structural Biology and Developmental Neurobiology, and Bin Zhang, Ph.D., Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, created PanNDA to understand and explore this network and how it is disrupted in these diseases.

Human papilloma virus (HPV) mediated cancers: an insightful update

Human papillomavirus (HPV), a DNA virus, is a well-documented causative agent of several cancers, including cervical, vulvar, vaginal, penile, anal, and head & neck cancers. Major factors contributing to HPV-related cancers include persistent infection and the oncogenic potential of particular HPV genotypes. High-risk HPV strains, particularly HPV-16 and HPV-18, are responsible for over 70% of cervical cancer cases worldwide, as well as a significant proportion of other genital and head and neck cancers. At the molecular level, the oncogenic activity of these viruses is driven by the overexpression of E6 and E7 oncoproteins. These oncoproteins dysregulate the cell cycle, inhibit apoptosis, and promote the accumulation of DNA damage, ultimately transforming normal cells into cancerous ones. This review aims to provide a comprehensive overview of the recent advances in HPV-related cancer biology and epidemiology. The review highlights the molecular pathways of HPV-driven carcinogenesis, focusing on the role of viral oncoproteins in altering host cell targets and disrupting cellular signalling pathways. The review explores the therapeutic potential of these viral proteins, and discusses current diagnostic and treatment strategies for HPV-associated cancers. Furthermore, the review highlights the critical role of HPV in the development of various malignancies, emphasizing the persistent challenges in combating these cancers despite advancements in vaccination and therapeutic strategies. We also emphasize recent breakthroughs in utilizing biomarkers to monitor cancer therapy responses, such as mRNAs, miRNAs, lncRNAs, proteins, and genetic markers. We hope this review will serve as a valuable resource for researchers working on HPV, providing insights that can guide future investigations into this complex virus, which continues to be a major contributor to global morbidity and mortality.

Abstract: Addressing an urgent translational need for patients with hereditary cancer syndromes caused by mutations in mismatch repair (MMR) genes!

https://doi.org/10.1172/JCI195189 Dolores Hambardzumyan & team develop mouse models of germline and somatic MMR-deficient high-grade gliomas, finding a role for MMR genes in tumor growth and temozolomide resistance, and presenting KL-50 as a therapeutic avenue.

The figure demonstrates a potent anti-tumor effect from KL-50 treatment in glioblastoma models.

1Departments of Oncological Sciences and Neurosurgery, The Tisch Cancer Institute and.

2Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

3Departments of Systems Biology and Biomedical Informatics, Columbia University, New York, New York, USA.

Mitochondrial capsule transplantation therapy shows potential for major diseases

Chinese researchers have developed a novel and highly efficient mitochondrial capsule transplantation therapy, achieving the safe and efficient transplantation of healthy mitochondria into cells and tissues for the first time. This new therapy can significantly alleviate symptoms of severe diseases such as Parkinson’s disease.

According to the study, published in the journal Cell, the therapy proposes a brand-new strategy in the field of regenerative medicine, shedding fresh light on intervention in refractory diseases caused by mitochondrial dysfunction, such as mitochondrial genetic diseases and neuron degenerative disorders.

Mitochondria are organelles that refer to specialized subunits with specific functions in cells. Mitochondria function like power plants in cells, continuously converting nutrients into energy for life activities. They are also the only organelles in human cells that possess their own genome.

Abstract: A new mouse disease model for parkinsonism with psychiatric features 👇

https://doi.org/10.1172/JCI169297 Freja Herborg & team explore the behavioral consequences and dopaminergic dysfunction that arise from patient-derived mutations in the dopamine transporter associated with parkinsonism and co-morbid neuropsychiatric disease, establishing a new mouse disease model.

The images show striatal slices with decreased immunolabeling intensity of both DR1 and DR2 in DAT-I312F/D421N+/+ mice compared with WT mice.

1Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

2CNS Research Group, Department of Pharmacology and Physiology, Department of Neurosciences, Faculty of Medicine, Université de Montréal, Montréal, Quebec, Canada.

3Centre for Neuroscience and Stereology, Copenhagen University Hospital Bispebjerg-Frederiksberg, Copenhagen, Denmark.

OMICmAge is a multiomic biological aging clock using electronic medical records

Using about 31,000 electronic medical records (EMRs), we developed the mortality biomarker EMRAge and used it to develop OMICmAge by integrating proteomic and metabolomic domains through epigenetic biomarker proxies. This scalable DNA-methylation measure quantifies biological aging, is associated with age-related incident and prevalent diseases, and its performance is comparable to or better than existing biomarkers at predicting mortality.

Researchers design a pioneering drug capable of reversing cognitive decline in Alzheimer’s disease in animal models

A team from the Institute of Neurosciences of the University of Barcelona (UBneuro) has designed and validated in animal models an innovative compound with a pioneering mechanism of action for the treatment of Alzheimer’s disease. Unlike current drugs, which mainly remove beta-amyloid plaques that accumulate in the brain, this new experimental drug reprogrammes the neuronal epigenome by correcting alterations in gene expression that contribute to the progression of the disease. The results of this study, published in Molecular Therapy, open the door to an epigenetic-based therapeutic strategy to fight Alzheimer’s disease.

“The compound FLAV-27 represents an innovative and promising approach to Alzheimer’s disease, with the potential to modify the disease process, as it acts not only on its symptoms or a single pathological biomarker, but directly on its underlying molecular mechanisms,” says Aina Bellver, a researcher at the UB Institute of Neurosciences (UBneuro) and first author of the paper.

The study was led by Christian Griñán and Mercè Pallàs, UBneuro researchers and Professors from the Faculty of Pharmacy and Food Sciences. Th work was performed with the participation of researchers from the CIBER Area for Neurodegenerative Diseases (CIBERNED), as well as the UB Institute of Biomedicine (IBUB), the Institute of Nutrition and Food Safety (INSA-UB), the August Pi i Sunyer Biomedical Research Institute (IDIBAPS) and other national and international institutions.

Technical Advance alert 🙌

https://doi.org/10.1172/jci.insight.

In this Research article, Benjamin D. Philpot & team establish a multimodal dual-reporter mouse that accelerates AngelmanSyndrome therapeutic development through scalable cell-based screening, high-resolution whole-brain mapping, non-invasive live imaging, and sorting neurons with unsilenced paternal Ube3a.

2Animal Models Core.

3Department of Genetics, and.

4Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Aging, Cancer, And Rejuvenation (Featuring Drs. Michael Levin And Leo Pio-Lopez)

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