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

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

doi:10.3389/fphys.2024.1481985

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

Front Physiol. 2024 Nov 6:15:1481985. doi: 10.3389/fphys.2024.1481985. eCollection 2024.

Authors

Affiliations

¹ Musculoskeletal Translational Innovation Initiative, Carl J. Shapiro Department of Orthopaedic Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, United States.
² Molecular Genetics Section, Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
³ Department of Orthopaedic Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
⁴ Department of Orthopaedic Surgery, Yerevan State Medical University, Yerevan, Armenia.

^# Contributed equally.

Abstract

Introduction: Hutchinson-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.

Methods: Key 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.

Results: Cortical thickness showed a trend toward increased values in HGPS mice. Cranial metrics revealed distinct differences.

Discussion: HGPS mice exhibited smaller internasal width, interzygomatic distance, and palatine length compared to WT mice over time.

Keywords: homozygous G608G progeria mouse model; maxillofacial abnormality; microCT (μCT); morphology; progeria.

Grants and funding

The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. CS Department of Orthopaedic Surgery at Beth Israel Deaconess Medical Center and Harvard Medical School intramural funding (AN).