Oligodontia is associated with extra‐oral ectodermal symptoms and low whole salivary flow rates

Nordgarden, Hilde; Jensen, Janicke Liaaen; Storhaug, Kari

doi:10.1034/j.1601-0825.2001.70405.x

Cited by 58 publications

(46 citation statements)

References 21 publications

(21 reference statements)

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“…HED patients demonstrate reduced whole saliva flow (Nordgarden et al, 2001) leading to xerostomia (dry mouth), further damage to an already compromised dentition and a reduced quality of life. Mammals have three pairs of major SGs that produce approximately 90% of total saliva (reviewed in Tucker, 2007): the submandibular (SMG) and sublingual (SLG) glands, situated under the tongue with ducts secreting into the floor of the mouth, and the parotid at the back of the mouth in between the upper and lower jaw, with ducts secreting saliva into the inner cheek.…”

Section: Introductionmentioning

confidence: 99%

Recombinant EDA or Sonic Hedgehog rescue the branching defect in Ectodysplasin A pathway mutant salivary glands in vitro

Wells

Mou

Headon

et al. 2010

Developmental Dynamics

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Hypohidrotic ectodermal dysplasia (HED) is characterized by defective ectodermal organ development. This includes the salivary glands (SGs), which have an important role in lubricating the oral cavity. In humans and mice, HED is caused by mutations in Ectodysplasin A (Eda) pathway genes. Various phenotypes of the mutant mouse Eda Ta/Ta , which lacks the ligand Eda, can be rescued by maternal injection or in vitro culture supplementation with recombinant EDA. However, the response of the SGs to this treatment has not been investigated. Here, we show that the submandibular glands (SMGs) of Eda Ta/Ta mice exhibit impaired branching morphogenesis, and that supplementation of Eda Ta/Ta SMG explants with recombinant EDA rescues the defect. Supplementation of Edar dlJ/dlJ SMGs with recombinant Sonic hedgehog (Shh) also rescues the defect, whereas treatment with recombinant Fgf8 does not. This work is the first to test the ability of putative Eda target molecules to rescue Eda pathway mutant SMGs. Developmental Dynamics 239:2674-2684,

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Section: Introductionmentioning

confidence: 99%

Recombinant EDA or Sonic Hedgehog rescue the branching defect in Ectodysplasin A pathway mutant salivary glands in vitro

Wells

Mou

Headon

et al. 2010

Developmental Dynamics

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“…The mean number of teeth missing from agenesis in this group was identical to individuals who did not report ectodermal symptoms. In studies of individuals with oligodontia referred to specialist dental centers, 29% of patients were reported to have a heritable syndrome diagnosed by a medical specialist [Schalk-van der Weide et al, 1994], and 57% to have clinical symptoms from hair, nails, and sweat glands [Nordgarden et al, 2001]. This implied that improved clinical diagnostics in dentistry through the identification of extra-oral symptoms could help to identify individuals with for example, ED among individuals with oligodontia.…”

mentioning

confidence: 96%

“…Thus, in 46% of patients a syndrome was confirmed or could not be excluded. A Norwegian study found 57% of individuals with oligodontia to have disturbances in hair, nails, or sweat production [Nordgarden et al, 2001]. These studies inferred that ectodermal symptoms and ectodermal dysplasias (EDs) are more common in individuals with oligodontia than was previously anticipated.…”

mentioning

confidence: 97%

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

Bergendal¹,

Klar²,

Stecksén‐Blicks³

et al. 2011

American J of Med Genetics Pt A

130

104

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Oligodontia is defined as the congenital lack of six or more permanent teeth, excluding third molars. Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. Here we define the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes, and the novel candidate gene EDARADD in a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia. Mutation screening was performed using denaturing gradient gel electrophoresis and DNA sequence analysis. Analyses of the coding sequences of the six genes showed sequence alterations predicted to be damaging or potentially damaging in ten of 93 probands (10.8%). Mutations were identified in the EDARADD (n = 1), AXIN2 (n = 3), MSX1 (n = 2), and PAX9 (n = 4) genes, respectively. None of the 10 probands with mutations had other self-reported symptoms from ectodermal tissues. The oral parameters were similar when comparing individuals with and without mutations but a family history of oligodontia was three times more frequent for probands with mutations. EDARADD mutations have previously been reported in a few families segregating hypohidrotic ectodermal dysplasia and this is, to our knowledge, the first report of an EDARADD mutation associated with isolated oligodontia.

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“…Hyposalivation leads to microbial infections as well as difficulty in chewing, speaking, and swallowing (Gupta et al 2006). Reduced saliva output is commonly seen in the following circumstances: a) Sjögren syndrome, b) head and neck γ-irradiation, c) trauma of the salivary glands, and d) developmental disorders such as ectodermal dysplasias (Nordgarden et al 2001;Konings et al 2005;Gupta et al 2006;Rogus-Pulia and Logemann 2011). Current treatments for hyposalivation are more palliative than curative.…”

Section: Introductionmentioning

confidence: 99%

Stem Cell–Soluble Signals Enhance Multilumen Formation in SMG Cell Clusters

et al. 2015

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Saliva plays a major role in maintaining oral health. Patients with salivary hypofunction exhibit difficulty in chewing and swallowing foods, tooth decay, periodontal disease, and microbial infections. At this time, treatments for hyposalivation are limited to medications (e.g., muscarinic receptor agonists: pilocarpine and cevimeline) that induce saliva secretion from residual acinar cells as well as artificial salivary substitutes. Therefore, advancement of restorative treatments is necessary to improve the quality of life in these patients. Our previous studies indicated that salivary cells are able to form polarized 3-dimensional structures when grown on growth factor-reduced Matrigel. This basement membrane is rich in laminin-III (L1), which plays a critical role in salivary gland formation. Mitotically inactive feeder layers have been used previously to support the growth of many different cell types, as they provide factors necessary for cell growth and organization. The goal of this study was to improve salivary gland cell differentiation in primary cultures by using a combination of L1 and a feeder layer of human hair follicle-derived mesenchymal stem cells (hHF-MSCs). Our results indicated that the direct contact of mouse submandibular (mSMG) cell clusters and hHF-MSCs was not required for mSMG cells to form acinar and ductal structures. However, the hHF-MSC conditioned medium enhanced cell organization and multilumen formation, indicating that soluble signals secreted by hHFMSCs play a role in promoting these features.

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Oligodontia is associated with extra‐oral ectodermal symptoms and low whole salivary flow rates

Cited by 58 publications

References 21 publications

Recombinant EDA or Sonic Hedgehog rescue the branching defect in Ectodysplasin A pathway mutant salivary glands in vitro

Recombinant EDA or Sonic Hedgehog rescue the branching defect in Ectodysplasin A pathway mutant salivary glands in vitro

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

Stem Cell–Soluble Signals Enhance Multilumen Formation in SMG Cell Clusters

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