Tooth Agenesis: from Molecular Genetics to Molecular Dentistry

Institute of Animal Physiology and Genetics, Academy of Sciences, Brno, Czech Republic.
Journal of Dental Research (Impact Factor: 4.14). 08/2008; 87(7):617-23. DOI: 10.1177/154405910808700715
Source: PubMed


Tooth agenesis may originate from either genetic or environmental factors. Genetically determined hypodontic disorders appear as isolated features or as part of a syndrome. Msx1, Pax9, and Axin2 are involved in non-syndromic hypodontia, while genes such as Shh, Pitx2, Irf6, and p63 are considered to participate in syndromic genetic disorders, which include tooth agenesis. In dentistry, artificial tooth implants represent a common solution to tooth loss problems; however, molecular dentistry offers promising solutions for the future. In this paper, the genetic and molecular bases of non-syndromic and syndromic hypodontia are reviewed, and the advantages and disadvantages of tissue engineering in the clinical treatment of tooth agenesis are discussed.

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    • "On the other hand, Bmp4 inhibits Pax9 expression in presumptive toothless sides (Fleischmanová et al. 2007). In the bud stage and during the transition to the cap stage, Pax9 interacts with Msx1 (Muscle segment homeobox 1) and Bmp4 (Bone morphogenetic protein 4) (Matalová et al. 2008;Peters et al. 1998). This is the key event for tooth germ development because Bmp4 is is necessary for production of primary enamel knot (Chinsembu 2012). "
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    ABSTRACT: Objectives: Tooth agenesis is one of the most common developmental anomalies in humans. Genetic and environmental factors may be of etiological importance in this condition. Among genes involved in tooth morphogenesis, mutations in PAX9, MSX1, AXIN2, WNT10a, and EDA genes have been associated with tooth agenesis. The aim of our study was to investigate the relationship between the PAX9 gene variants and tooth agenesis in the Czech population. Methods: The selected regions of the PAX9 gene were analysed by direct sequencing and compared with the reference sequence from the GenBank online database (NCBI). Results: We found several novel variants in the PAX9 gene, e.g. insertion g.5100_5101insC (rs11373281) with simultaneous substitution g.5272C>G (rs4904155) in exon 1, and mutation g.10934C>T (Gly203Gly, rs61754301) in exon 3. In subjects with full dentition we observed polymorphisms g.10276A>G (rs12882923) and g.10289A>G (rs12883049) in IVS2 (intervening sequence 2) previously related to tooth agenesis in Polish study. Conclusions: In our study we excluded a direct effect of rs12882923 and rs12883049 polymorphisms on the dental agenesis in the Czech population. All described PAX9 genetic variants were present both in patients with tooth agenesis and controls. We expect that tooth agenesis in our cohort of patients is caused by mutations in regions different from PAX9 exons analyzed in our study.
    Full-text · Article · Jan 2016 · Neuro endocrinology letters
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    • "Oral cancers and their treatments often affect the structure and physiological function of more than one orofacial tissues and organs. In particular, radiotherapy and chemotherapy strongly affect salivary gland function, resulting in severe swallowing problems, dental caries and tooth loss (Cooper et al., 1995; Langendijk et al., 2008; Marec-Berard et al., 2005; Matalova et al., 2008; Minicucci et al., 2003). All these conditions mentioned above affect tooth functionality. "
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    ABSTRACT: Stem cell-based mediated therapies represent very promising approaches for tissue regeneration and are already applied with success in clinics. These therapeutic approaches consist of the in vitro manipulation of stem cells and their consequent administration to patients as living and dynamic biological agents. Nevertheless, the deregulation of stem cells function might result in the generation of pathologies such as tumours or accelerated senescence. Moreover, different stem cells sources are needed for regeneration of specific tissues. It is thus fundamental to understand the mechanisms regulating the physiology of stem cells. Microfluidic technology can be used to mimic in vivo scenarios and allow the study of stem cell physiology at both single cell and whole stem cell niche levels.This review focuses on the potential sources of stem and progenitor cells for orofacial regeneration and the use of microfluidic technologies for the study of stem cells behaviour and stem cell niches, in the light of regenerative medicine.
    Full-text · Article · Mar 2015 · European cells & materials
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    • "The aetiological factors associated with hypodontia include physical disruption of the lamina dura, abnormalities of the dental epithelium, and underlying neural crest derived mesenchyme failing to induce tooth germ production [20]. There is a strong genetic basis with MSX1, TGFA, and PAX9 mutations isolated for tooth agenesis [21]. More recently, WNT10A has been isolated and shown to improve the diagnostic yield of DNA testing in isolated nonsyndromic hypodontia [22]. "
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    ABSTRACT: Although hypodontia and supernumerary teeth are often considered as mutually exclusive conditions, this case report presents an unusual case of hypodontia and a supernumerary tooth occurring simultaneously. An adolescent male was referred to the local hospital department regarding upper arch crowding. Plain film radiographs confirmed the congenital absence of both lower lateral incisors in addition to an unerupted conical supernumerary tooth in the maxillary midline. This condition has been called hypo-hyperdontia and in this paper, we discuss the clinical findings and treatment planning considerations in relation to the limited number of previously reported cases. The case report raises awareness of concomitant hypo-hyperdontia and serves to highlight that concomitant anomalies should be excluded when hypodontia or supernumerary teeth are diagnosed.
    Full-text · Article · Sep 2013
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