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Molecular Pathway Analysis of Genetic Hearing Loss
ENT Department, Hippokration Hospital, Athens, Greece.
Department of Otology and Laryngology, Harvard Medical School, United States; Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston MA, United States.
2012 (English)Conference paper, Poster (with or without abstract) (Other academic)
Abstract [en]

Hypothesis: Deafrress genes are intercoonected through common molecular pathways.

Background: There are many genes implicated in genetic hearing loss, and many more to be identified. This daunting complexity can be simplified by analyzing molecular pathways that these genes belong to.

Methods: Genes relevant for hearing and deaftress were identified through PubMed literature searches, and assembled into 3 groups: (1) 74 genes that cause non-syndromic deafress, (2) 125 genes that cause non-syndromic and syndromic deafress, and (3) 122 getes associated with otic capsule development and malformations. Each group was analyzed using lngenuity Pathway Analysis to discover the most interconnected ,i.e. 'nodal' molecules, within the most statistically sipificant networks (p<10-45).

Results: The number of networks that met our criterion for significance was I (group l) or 2 (groups 2 and 3). Nodal molecules of these networks were: Transforming Growth Factor Betal (TGFBI) for group 1, p42/p44 MAP Kinase (ERK l/2) and the G Protein Coupled Receptors (GPCR) for group 2, and TGFBI and Hepatocyte Nuclear Factor 4 alpha (HNF4a) for group 3. The nodal molecules included not only those known to be associated with deaftress (GPCR), or with predisposition to otosclerosis (TGFB I ), but also novel genes that have not been described in the cochlea (HNF4a), and signaling kinases (ERK l/2).

Conclusions: A number of molecules that are likely to be key mediators of genetic hearing loss were identified through three different molecular pathway analyses. The molecules included new candidate genes for deafress. Therapies targeting these molecules may be useful to treat deahess.

Place, publisher, year, edition, pages
2012. p. 43-43
National Category
Otorhinolaryngology
Identifiers
URN: urn:nbn:se:oru:diva-82825OAI: oai:DiVA.org:oru-82825DiVA, id: diva2:1437427
Conference
145th Annual Spring Meeting at COSM, American Otological Society (AOS) Section, San Diego, CA, USA, April 21-22, 2012
Available from: 2020-06-09 Created: 2020-06-09 Last updated: 2020-06-09Bibliographically approved

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PROGRAM and ABSTRACTS of the One Hundred Forty-Fifth Annual Meeting

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Stamatiou, Georgios

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CiteExportLink to record
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  • apa
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