Craniofacial Bone Anomalies Related to Cholesterol Synthesis Defects

Authors

Chihiro Iwaya
Akiko Suzuki
Junbo Shim
Aemin Kim
Junichi Iwata

Publication Date

3-4-2024

Journal

Scientific Reports

Abstract

DHCR7 and SC5D are enzymes crucial for cholesterol biosynthesis, and mutations in their genes are associated with developmental disorders, which are characterized by craniofacial deformities. We have recently reported that a loss of either Dhcr7 or Sc5d results in a failure in osteoblast differentiation. However, it remains unclear to what extent a loss of function in either DHCR7 or SC5D affects craniofacial skeletal formation. Here, using micro computed tomography (μCT), we found that the bone phenotype differs in Dhcr7

Keywords

Animals, Mice, X-Ray Microtomography, Musculoskeletal Abnormalities, Lipid Metabolism, Cell Differentiation, Cholesterol

Comments

Supplementary Materials

PMID: 38438535