Dental and craniofacial defects in the Crtap-/- mouse model of osteogenesis imperfecta type VII.

Developmental Dynamics : an Official Publication of the American Association of Anatomists
He XuNan E Hatch

Abstract

Inactivating mutations in the gene for cartilage-associated protein (CRTAP) cause osteogenesis imperfecta type VII in humans, with a phenotype that can include craniofacial defects. Dental and craniofacial manifestations have not been a focus of case reports to date. We analyzed the craniofacial and dental phenotype of Crtap-/- mice by skull measurements, micro-computed tomography (micro-CT), histology, and immunohistochemistry. Crtap-/- mice exhibited a brachycephalic skull shape with fusion of the nasofrontal suture and facial bones, resulting in mid-face retrusion and a class III dental malocclusion. Loss of CRTAP also resulted in decreased dentin volume and decreased cellular cementum volume, though acellular cementum thickness was increased. Periodontal dysfunction was revealed by decreased alveolar bone volume and mineral density, increased periodontal ligament (PDL) space, ectopic calcification within the PDL, bone-tooth ankylosis, altered immunostaining of extracellular matrix proteins in bone and PDL, increased pSMAD5, and more numerous osteoclasts on alveolar bone surfaces. Crtap-/- mice serve as a useful model of the dental and craniofacial abnormalities seen in individuals with osteogenesis imperfecta type VII.

References

Aug 1, 1986·Journal of Medical Genetics·I M OrioliJ G Barbosa-Neto
Aug 1, 1994·Journal of Clinical Periodontology·P R Wesselink, W Beertsen
Aug 1, 1994·Journal of Clinical Periodontology·P R Wesselink, W Beertsen
Mar 3, 1999·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·A C O'Connell, J C Marini
Mar 25, 2005·Journal of Cell Science·Elizabeth G Canty, Karl E Kadler
Nov 9, 2005·Journal of Periodontology·Marc SchätzleDieter D Bosshardt
Sep 15, 2006·European Journal of Orthodontics·Pei-Ching ChangKuang-Hung Hsu
Dec 29, 2006·The New England Journal of Medicine·Aileen M BarnesJoan C Marini
Apr 22, 2008·Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons·Dror AizenbudAlvaro A Figueroa
Mar 17, 2009·Physics in Medicine and Biology·Joseph U UmohDavid W Holdsworth
Sep 29, 2009·American Journal of Human Genetics·Fleur S van DijkGerard Pals
Oct 29, 2009·Cell and Tissue Research·Joan C MariniAileen M Barnes
May 21, 2010·PloS One·Dustin BaldridgeRoy Morello
Jun 10, 2010·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Mary L BouxseinRalph Müller
Apr 5, 2011·International Journal of Oral and Maxillofacial Surgery·A RosénO Larson
Mar 31, 2012·American Journal of Medical Genetics. Part a·David A StevensonMarcia L Feldkamp
Nov 28, 2012·Journal of Dental Research·B L FosterM J Somerman
Jun 27, 2013·BioMed Research International·Adele L BoskeyJoan C Marini
Jan 15, 2014·Human Molecular Genetics·Alison M MuirDaniel S Greenspan
Apr 5, 2014·Journal of Dental Research·B L FosterM T Collins
Jun 27, 2014·Journal of Dental Research·L WangM J Somerman
Dec 17, 2014·International Journal of Oral Science·Laura E ZweiflerBrian L Foster
Jan 22, 2015·American Journal of Medical Genetics. Part a·Meena BalasubramanianNicholas J Bishop
Feb 17, 2015·American Journal of Human Genetics·Frank RauchPierre Moffatt
May 7, 2015·European Journal of Human Genetics : EJHG·Katarina LindahlAndreas Kindmark
Nov 7, 2015·Lancet·Antonella Forlino, Joan C Marini
Dec 5, 2015·Genetics and Molecular Research : GMR·C BarbiratoF Paula
Dec 31, 2015·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Ingo GrafeBrendan Lee
Jun 28, 2016·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Lars FolkestadKim Brixen
Jul 12, 2017·Journal of Proteome Research·Masahiko TerajimaMitsuo Yamauchi
Aug 19, 2017·Nature Reviews. Disease Primers·Joan C MariniOliver Semler
Dec 16, 2017·Journal of Dental Research·V Thumbigere-MathB L Foster
Feb 2, 2018·Orthodontics & Craniofacial Research·Z JabbourF Tamimi
Mar 14, 2018·Journal of Dental Research·M WolfB L Foster
Apr 11, 2018·Journal of Human Genetics·Piranit Nik KantaputraPrapai Dejkhamron

❮ Previous
Next ❯

Citations

Jun 28, 2020·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Rachel A MenegazJason M Organ
Mar 30, 2021·JBMR Plus·Michael B ChavezBrian L Foster
May 22, 2021·Bone·Doaa TaqiUNKNOWN Members of the BBDC

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.