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Defining the progeria phenome.
Worm, Cecilie; Schambye, Maya Elena Ramirez; Mkrtchyan, Garik V; Veviorskiy, Alexander; Shneyderman, Anastasia; Ozerov, Ivan V; Zhavoronkov, Alex; Bakula, Daniela; Scheibye-Knudsen, Morten.
Affiliation
  • Worm C; Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.
  • Schambye MER; Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.
  • Mkrtchyan GV; Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.
  • Veviorskiy A; Insilico Medicine AI Limited, Level 6, Unit 08, Block A, IRENA HQ Building, Masdar City, Abu Dhabi, UAE.
  • Shneyderman A; Insilico Medicine Hong Kong Limited, Science Park West Avenue, Hong Kong, China.
  • Ozerov IV; Insilico Medicine Hong Kong Limited, Science Park West Avenue, Hong Kong, China.
  • Zhavoronkov A; Insilico Medicine AI Limited, Level 6, Unit 08, Block A, IRENA HQ Building, Masdar City, Abu Dhabi, UAE.
  • Bakula D; Insilico Medicine Hong Kong Limited, Science Park West Avenue, Hong Kong, China.
  • Scheibye-Knudsen M; Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.
Aging (Albany NY) ; 16(3): 2026-2046, 2024 02 09.
Article in En | MEDLINE | ID: mdl-38345566
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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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Progeria / Cockayne Syndrome / Aging, Premature Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Aging (Albany NY) Journal subject: GERIATRIA Year: 2024 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Progeria / Cockayne Syndrome / Aging, Premature Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Aging (Albany NY) Journal subject: GERIATRIA Year: 2024 Document type: Article Affiliation country: Country of publication: