Changes in the Transcriptome and Proteome of Cartilage in Microtia.


Journal

The Journal of craniofacial surgery
ISSN: 1536-3732
Titre abrégé: J Craniofac Surg
Pays: United States
ID NLM: 9010410

Informations de publication

Date de publication:
01 Oct 2021
Historique:
pubmed: 13 4 2021
medline: 30 10 2021
entrez: 12 4 2021
Statut: ppublish

Résumé

Congenital microtia is a severe physiological defect and is among the most common craniofacial defects. It is characterized by severe auricle dysplasia, external auditory canal atresia or stenosis, and middle ear malformation, though inner ear development is mostly normal with some hearing occurring through bone conduction. Auricular reconstruction is the only treatment for congenital microtia. In this study, the authors integrated messenger ribonucleic acid and mass spectrometry data of cartilage obtained from the affected and unaffected sides of 16 unilateral microtia patients who had undergone ear reconstruction surgery. The authors next performed functional analyses to investigate differences in the proteome of the affected and unaffected ears to elicit molecular pathways involved in microtia pathogenesis. The authors collected 16 pairs samples. Proteomic and transcriptomic analyses identified 47 genes that were differentially expressed in affected and unaffected cartilage. Integrated pathway analysis implicated the involvement of genes related to cell adhesion, extracellular matrix organization, and cell migration in disease progression. Through the integration of gene and protein expression data in human primary chondrocytes, the authors identified molecular markers of microtia progression that were replicated across independent datasets and that have translational potential.

Identifiants

pubmed: 33840765
doi: 10.1097/SCS.0000000000007660
pii: 00001665-900000000-92690
doi:

Substances chimiques

Proteome 0

Types de publication

Journal Article

Langues

eng

Pagination

2301-2304

Informations de copyright

Copyright © 2021 by Mutaz B. Habal, MD.

Déclaration de conflit d'intérêts

The authors report no conflicts of interest.

Références

Alasti F, Van Camp G. Genetics of microtia and associated syndromes. J Med Genet 2009; 46:361–369.
Luquetti DV, Leoncini E, Mastroiacovo P. Microtia-anotia: a global review of prevalence rates. Birth Defects Res A Clin Mol Teratol 2011; 91:813–822.
Luquetti DV, Heike CL, Hing AV, et al. Microtia: epidemiology and genetics. Am J Med Genet A 2012; 158A:124–139.
Zhang YB, Hu J, Zhang J, et al. Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. Nat Commun 2016; 7:10605.
Ozeki H. Development of the auricle and external auditory canal. Adv Otorhinolaryngol 2014; 75:30–35.
Bartel-Friedrich S. Congenital auricular malformations: description of anomalies and syndromes. Facial Plast Surg 2015; 31:567–580.
Wang X, Liu Q, Zhang B. Leveraging the complementary nature of RNA-Seq and shotgun proteomics data. Proteomics 2014; 14:2676–2687.
Kita K, Kimura T, Nakamura N, et al. PI3K/Akt signaling as a key regulatory pathway for chondrocyte terminal differentiation. Genes Cells 2008; 13:839–850.
Chen X, Zhang R, Zhang Q, et al. Microtia patients: Auricular chondrocyte ECM is promoted by CGF through IGF-1 activation of the IGF-1R/PI3K/AKT pathway. J Cell Physiol 2019; 234:21817–21824.
Wei G. Bioinformatics analysis of microRNA comprehensive regulatory network in congenital microtia. Int J Pediatr Otorhinolaryngol 2015; 79:1727–1731.
Gendron C, Schwentker A, van Aalst JA. Genetic advances in the understanding of microtia. J Pediatr Genet 2016; 5:189–197.
Paluch EK, Aspalter IM, Sixt M. Focal adhesion-independent cell migration. Annu Rev Cell Dev Biol 2016; 32:469–490.
Slack JK, Lacoste J, Parsons JT. Focal adhesion kinase and its associated proteins. Signaling Through Cell Adhesion Molecules 2019; 49–62.
Sharma SA, Patil SVP, Mudhol A, et al. Hemifacial microsomia: a mini review. J Adv Med Med Res 2019; 1–7.
Korver AM, Smith RJ, Van Camp G, et al. Congenital hearing loss. Nat Rev Dis Primers 2017; 3:16094.
Colombier P, Risbud MV. Challenges in Cell-Based Therapies for Intervertebral Disc Regeneration: Lessons Learned From Embryonic Development and Pathophysiology. 2018; London: Elsevier, 149-180.
Prein C, Beier F. ECM signaling in cartilage development and endochondral ossification. Curr Top Dev Biol 2019; 133:25–47.
Toh WS, Foldager CB, Hui JH, et al. Exploiting stem cell-extracellular matrix interactions for cartilage regeneration: a focus on basement membrane molecules. Curr Stem Cell Res Ther 2016; 11:618–625.
Loeser RF, Carlson CS, McGee MP. Expression of beta 1 integrins by cultured articular chondrocytes and in osteoarthritic cartilage. Exp Cell Res 1995; 217:248–257.
Brakebusch C, Fassler R. beta 1 integrin function in vivo: adhesion, migration and more. Cancer Metastasis Rev 2005; 24:403–411.
Gao Y, Liu S, Huang J, et al. The ECM-cell interaction of cartilage extracellular matrix on chondrocytes. Biomed Res Int 2014; 2014:648459.
Zhang QG, Zhang J, Yu P, et al. Environmental and genetic factors associated with congenital microtia: a case-control study in Jiangsu, China, 2004 to 2007. Plast Reconstr Surg 2009; 124:1157–1164.
Parker KK, Ingber DE. Extracellular matrix, mechanotransduction and structural hierarchies in heart tissue engineering. Philos Trans R Soc Lond B Biol Sci 2007; 362:1267–1279.
Gjorevski N, Nelson CM. Bidirectional extracellular matrix signaling during tissue morphogenesis. Cytokine Growth Factor Rev 2009; 20:459–465.
Woods A, Wang G, Beier F. Regulation of chondrocyte differentiation by the actin cytoskeleton and adhesive interactions. J Cell Physiol 2007; 213:1–8.

Auteurs

Weiwei Dong (W)

Department of Auricular Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH