Characterization of the craniofacial abnormalities of the homozygous G608G progeria mouse model

IntroductionHutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by premature aging, impacting multiple organ systems, including cardiovascular, musculoskeletal, and integumentary. Significant abnormalities in a transgenic mouse model (homozygous G608G mutation), spe...

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Main Authors: Indeevar Beeram, Maria Belen Cubria, Pramod Kamalapathy, Diana Yeritsyan, Amanda J. Dubose, Ahmad Hedayatzadeh Razavi, Nazanin Nafisi, Michael R. Erdos, Brian D. Snyder, Wayne A. Cabral, Francis S. Collins, Ara Nazarian
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Physiology
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Online Access:https://www.frontiersin.org/articles/10.3389/fphys.2024.1481985/full
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Summary:IntroductionHutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by premature aging, impacting multiple organ systems, including cardiovascular, musculoskeletal, and integumentary. Significant abnormalities in a transgenic mouse model (homozygous G608G mutation), specifically targeting the development of skull and facial bone indices through high-resolution CT scanning and cephalometric analysis.MethodsKey measurements include bone thickness, skull volume, and cranial suture integrity. Bone volume increased significantly in HGPS mice by 8 months of age compared to wildtype mice.ResultsCortical thickness showed a trend toward increased values in HGPS mice. Cranial metrics revealed distinct differences.DiscussionHGPS mice exhibited smaller internasal width, interzygomatic distance, and palatine length compared to WT mice over time.
ISSN:1664-042X