MMP1 and MMP20 contribute to tooth agenesis in humans

Küchler, Érika Calvano; Menezes, Renato; Callahan, Nicholas; Costa, Marcelo C.; Modesto, Adriana; Meira, Raquel; Patır, Aslı; Seymen, Figen; Paiva, Katiúcia Batista Silva; Nunes, Fábio Daumas; Granjeiro, José Mauro; Vieira, Alexandre R.

doi:10.1016/j.archoralbio.2010.11.007

Cited by 21 publications

(19 citation statements)

References 29 publications

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“…Environmental and epigenetic factors as well as genes regulating odontogenesis require further in vivo and in vitro investigation in order to better explain the phenotypic heterogeneity and to increase our knowledge about the odontogenic process (Swinnen et al, 2008). In spite of recent developments, data regarding the genes responsible for the less severe forms of hypodontia are still scarce and controversial (Kuchler et al, 2010). A study of familiar aggregation in a Portuguese population of sixty-two probands with MLIA and 142 first-degree relatives showed that the relative risk (RR) for a first-degree relative of an i n d i v i d u a l w i t h M L I A t o h a v e t h e s a m e t y p e o f a g e n e s i s w a s 1 5 t i m e s h i g h e r w h e n compared with a relative of an individual without that agenesis.…”

Section: Etiologymentioning

confidence: 99%

“…In spite of recent progress, the etiopathogenesis of hypodontia remains largely unknown (Kuchler et al, 2010;Vastardis, 2000;Kapadia et al, 2007). There is evidence that congenital tooth absence can be the result of environmental or hereditary causes, or even of their interaction (Schalk-van der Weide & Bosman, 1996;Swinnen et al, 2008).…”

Section: Etiologymentioning

confidence: 99%

“…The evidence of a genetic cause for non-syndromic hypodontia came from the identification of significant family aggregation of MLIA and suggest microdontia of maxillary lateral incisors as part of the same phenotype, segregating as an autosomal dominant trait with incomplete penetrance ; however, modes of transmission linked to X-chromosome and of polygenic or multifactorial type have also been proposed (Chosack et al, 1975). Candidate genes in early steps of tooth development regulation (MSX1, PAX9, AXIN2, TGFa, Activin-b A, LEF1, RUNX2, BMP4, MMP1, MMP20), have been screened for putative mutations in affected families (Kuchler et al, 2010;Lin et al, 2008;Tummers &Thesleff, 2009). …”

Section: Etiologymentioning

confidence: 99%

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Maxillary Lateral Incisor Agenesis (MLIA)

Pinho¹

2011

Principles in Contemporary Orthodontics

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Section: Etiologymentioning

confidence: 99%

Section: Etiologymentioning

confidence: 99%

Section: Etiologymentioning

confidence: 99%

See 1 more Smart Citation

Maxillary Lateral Incisor Agenesis (MLIA)

Pinho¹

2011

Principles in Contemporary Orthodontics

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“…Recent genetic studies have provided information about a number of genes related to tooth agenesis. Several genetic variations and mutations in AXIN2 (7), BMP4 (8), MMPs (MMP1 and MMP20) (9), PAX9 (10,11), MSX1 (10), TGFB3 (8), and WNT10A (12,13) have been associated with tooth developmental failure.…”

Section: Introductionmentioning

confidence: 99%

Genetic variations in MMP9 and MMP13 contribute to tooth agenesis in a Brazilian population

et al. 2013

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We investigated the association between polymorphisms in the MMP2 (rs243865), MMP9 (rs17576), and MMP13 (rs2252070) genes with tooth agenesis in humans. Two hundred eighty-five unrelated individuals (202 controls without tooth agenesis and 83 cases with tooth agenesis) were evaluated in a cross-sectional single-center study. The study participants were recruited through the Pediatric Dental Clinics of the Federal University of Rio de Janeiro, Brazil. Genotyping of the selected polymorphisms for MMPs was carried out by real-time PCR using the Taqman assay method from genomic DNA isolated from buccal epithelial cells of all the studied individuals. There was no significant association of MMP2 genotype or allele distribution with tooth agenesis or its absence. For MMP9, a significant difference in allele frequency was evident between the two groups (P = 0.05). With regard to the affected side, there was a significant difference between unilateral tooth agenesis and the control group in the distribution of MMP9 (P = 0.05). Also, there was a significant difference in MMP9 distribution between tooth agenesis in the maxilla and control individuals (P = 0.03). The genotype distribution of MMP13 differed significantly between the group with unilateral tooth agenesis and the controls (P = 0.01). Our findings provide evidence that MMP9 and MMP13 may be involved in tooth agenesis. (J Oral Sci 55, 281-286, 2013)

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“…Por otro lado, Kuchler y colaboradores 32 estudiaron la asociación de MMP-1, MMP-3 y MMP-20, y su relación con agenesias dentales en 167 familias nucleares de dos poblaciones diferentes, 116 de Brasil y 51 de Turquía. Los participantes tenían al menos un diente ausente.…”

Section: Studies In Humansunclassified

El papel de la enamelisina (MMP-20) en el desarrollo dentario. Revisión sistemática

Rivas

Ramos

2015

Rev Fac Odontol Univ Antioq

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Abstract. Introduction: ameloblasts are cells responsible for the production and mineralization of the organic matrix of enamel through several stages: pre-secretory, secretory, transition, and maturation. The organic matrix components are produced in the secretory phase. In the maturation phase, the organic component is removed and the mineralization process starts. This process requires the involvement of matrix metalloproteinase 20 introdUcción Amelogénesis La morfogénesis de los órganos dentarios inicia a la sexta semana de vida intrauterina en seres humanos (aproximadamente a los cuarenta y cinco días), y en el ratón inicia en el estadio E12.5 1 . El primer indicio consiste en la diferenciación de la lámina dental o listón dentario, originado del ectodermo que reviste la cavidad oral. El ectomesénquima induce a las células basales del epitelio oral a proliferar y formar dos nuevas estructuras: la lámina vestibular y la lámina dentaria. La lámina vestibular formará el surco vestibular y la lámina dentaria dará origen a los crecimientos epiteliales correspondientes a los futuros dientes; 20 deciduos y 32 gérmenes de dentición permanente. De acuerdo a su morfología, los gérmenes dentales seguirán una evolución en: estadio de brote macizo (o yema), estadio de casquete, estadio de campana y estadio de folículo dentario, terminal o maduro.Es en el estadio de campana el órgano del esmalte presenta una nueva capa, el estrato intermedio, ubicado entre el retículo estrellado y el epitelio interno. Al finalizar esta etapa de campana, inicia la histogénesis o aposición de los tejidos duros dentarios (dentina y esmalte). Las células que conforman el epitelio interno, también llamadas preameloblastos, se diferencian en ameloblastos jóvenes y serán las encargadas de la producción del esmalte.El esmalte, también conocido con el nombre de sustancia o tejido adamantino, está ubicado en la porción coronal cubriendo la dentina subyacente. Se origina del ór-gano del esmalte, y es el tejido más duro del organismo. Está constituido por los prismas de esmalte, los cuales están altamente mineralizados, ubicados desde la conexión amelodentinal (CAD) a la superficie externa o libre en contacto con la cavidad oral. La matriz inorgánica del esmalte la conforman los cristales de hidroxiapatita y representa un 95%. Estos están constituidos por fosfato de calcio y se encuentran densamente compactados. La matriz orgánica del esmalte es de naturaleza proteica;

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MMP1 and MMP20 contribute to tooth agenesis in humans

Abstract: Our findings provide evidence that MMP1 and MMP20 play a role in human tooth agenesis.

Cited by 21 publications

References 29 publications

Maxillary Lateral Incisor Agenesis (MLIA)

Maxillary Lateral Incisor Agenesis (MLIA)

Genetic variations in MMP9 and MMP13 contribute to tooth agenesis in a Brazilian population

El papel de la enamelisina (MMP-20) en el desarrollo dentario. Revisión sistemática

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