Unraveling the role of the lncRNA associated with hearing loss.

• Grant number: 23/10904-6
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: February 01, 2024
• End date: December 31, 2024
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Karina Lezirovitz Mandelbaum
• Grantee: Danillo Alencar Coutinho
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Deafness or hearing loss (HL) is one of the most heterogeneous disorders known, both in terms of clinical manifestation and etiology and may manifest in isolation (70% of AP cases) or be syndromic when accompanied by other clinical signs (30%). There are still many genes to be identified, although more than 120 are known only related to non-syndromic hearing loss. Next-generation sequencing has been accelerating the identification of hearing loss genes, both in relation to the exome for identifying the causative genetic variant in families and in generating data on the genes expressed (transcriptome) in the target tissue (inner ear/cochlea) mainly in animal models. Of the approximately 20,000 human protein-coding genes, 4,000 have already been associated with human disease (AVRAHAM et al., 2022). More recently, as the genome has been better mapped, attention has turned to its non-coding portion, which undoubtedly has already been proven to be able to influence human health and disease, including BP. Allied with this, the trend towards greater scientific transparency (open Science) made public access to big data generated by new omics technologies, which provided the availability of large amounts of gene expression data that need to be explored from different perspectives. This project aims to contribute to the identification of new AP genes by: 1) Investigating whether lncRNA transcripts from the DFNA58 locus alter the expression of neighboring genes through in vitro transcription and transfection, with the aim of contributing to the elucidation of the role of these lncRNA genes in PA.