Defining the Progeria Phenome | Aging-US
Aging-US #published this #researchpaper on February 9, 2024, in Volume 16, Issue 3, entitled, “Defining the progeria phenome" by researchers from the Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark; Insilico Medicine AI Limited, Level 6, Unit 08, Block A, IRENA HQ Building, Masdar City, Abu Dhabi, UAE; Insilico Medicine Hong Kong Limited, Science Park West Avenue, Hong Kong, China. @UniversityofCopenhagenUCPH @InsilicoMedicine
#aging #progeria #phenome #phenotype #prematureaging #research #paper #openaccess #openscience #peerreview #journal #publication #publishing #meded #spotlight
DOI - https://doi.org/10.18632/aging.205537
Corresponding author - Morten Scheibye-Knudsen - [email protected]
Abstract
Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associated with normal aging. Due to the large variation in clinical presentation the diseases pose a diagnostic challenge for clinicians which consequently restricts medical research. To accommodate the challenge, we compiled a list of known progeroid syndromes and calculated the mean prevalence of their associated phenotypes, defining what we term the ‘progeria phenome’. The data were used to train a support vector machine that is available at https://www.mitodb.com and able to classify progerias based on phenotypes. Furthermore, this allowed us to investigate the correlation of progeroid syndromes and syndromes with various pathogenesis using hierarchical clustering algorithms and disease networks. We detected that ataxia-telangiectasia like disorder 2, spastic paraplegia 49 and Meier-Gorlin syndrome display strong association to progeroid syndromes, thereby implying that the syndromes are previously unrecognized progerias. In conclusion, our study has provided tools to evaluate the likelihood of a syndrome or patient being progeroid. This is a considerable step forward in our understanding of what constitutes a premature aging disorder and how to diagnose them.
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Keywords - aging, progeria, premature aging, phenome, clinical phenotype
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Launched in 2009, Aging-US publishes papers of general interest and biological significance in all fields of aging research and age-related diseases, including cancer—and now, with a special focus on COVID-19 vulnerability as an age-dependent syndrome. Topics in Aging-US go beyond traditional gerontology, including, but not limited to, cellular and molecular biology, human age-related diseases, pathology in model organisms, signal transduction pathways (e.g., p53, sirtuins, and PI-3K/AKT/mTOR, among others), and approaches to modulating these signaling pathways.
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