Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations

Journal of Dental Research
Yang XueX Duan

Abstract

Cathepsin K (CTSK) is an important protease responsible for degrading type I collagen, osteopontin, and other bone matrix proteins. The mutations in the CTSK gene can cause pycnodysostosis (OMIM 265800), a rare autosomal recessive bone dysplasia. Patients with pycnodysostosis have been reported to present specific dental abnormalities; however, whether these dental abnormalities are related to dysfunctional CTSK has never been reported. Here we investigated the histologic changes of cementum and alveolar bone in a pycnodysostosis patient, caused by novel compound heterozygous mutations in the CTSK gene (c.87 G>A p.W29X and c.848 A>G p.Y283C). The most impressive manifestations in tooth were extensive periradicular high-density clumps with unclear periodontal space by orthopantomography examination and micro-computed tomography scanning analysis. Hematoxylin/eosin and toluidine blue staining and atomic force microscopy analysis showed that the cementum became significantly thickened, softened, and full of cementocytes. The disorganized bone structure was the main character of alveolar bone. The p.W29X mutation may represent the loss-of-function allele with an earlier termination codon in the precursor CTSK polypeptide. Residue Y...Continue Reading

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Citations

Oct 13, 2015·Oral Diseases·X WenYang Xue
Jul 13, 2016·Journal of Tissue Engineering and Regenerative Medicine·Fen LiuFa-Ming Chen
Aug 26, 2016·European Journal of Medical Research·Thaís Fenz AraujoDenise Pontes Cavalcanti
Jan 18, 2018·Current Osteoporosis Reports·Eleonora PalaganoAnna Villa
Mar 1, 2019·Journal of Cellular Biochemistry·Manhui PangBruce Robert Troen
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May 5, 2021·European Journal of Medical Genetics·Haseena SaitShubha R Phadke
Jun 22, 2021·Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology·Yehia El-MahallawyHaytham Al-Mahalawy

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Methods Mentioned

BETA
PCR
Transfection
atomic force microscopy
AFM
Fluorescence
reverse transcription PCR
transfects

Software Mentioned

MegAlign
PdbViewer
SWISS
DNAStar
Pdb Viewer
MODEL
SIFT
Inveon Workplace
Scanning Probe Image Processor ( SPIPTM , Image Metrology ApS

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