OP4: The pivotal role of Pejvakin (DFNB59) protein in hearing loss in humans in ChemBiotIC Chemistry &amp; Biotechnology International Conference PROGRAMME AND BOOK OF ABSTRACTS June 22 and 23 2023 at University of Wrocław
Creators: name: Rajamani, Santhosh Kumar
Publisher: name: Zenodo
Year: 2023
Subjects: Genetics, Otorhinolaryngology, Bioinformatics

description: <strong>OP4</strong>: <strong>The</strong> <strong>pivotal</strong> <strong>role</strong> <strong>of</strong> <strong>Pejvakin</strong> (<strong>DFNB59</strong>) <strong>protein</strong> <strong>in</strong> <strong>hearing</strong> <strong>loss</strong> <strong>in</strong> <strong>humans</strong> <strong>Santhosh</strong> <strong>Kumar</strong> <strong>Rajamani</strong>* Department of Otorhinolaryngology, MAEER MIT Pune’s MIMER Medical College, and Dr. BSTR Hospital, Talegaon D, 410507, Pune, Maharashtra, INDIA Keywords: cochlear nerve, inner ear, DFNB59, pejvakin, deafness, hair cells, apoptosis <strong>Objective</strong> The protein pejvakin, also known as DFNB59, is largely expressed in the inner ear, and other organs like testis (highest concentration), liver, brain, lungs, eyes, kidneys, and intestinal tissues. and is essential for hearing [1]. Pejvakin belongs to the gasdermin family of proteins that mediate pyroapoptosis in vertebrates. Gasdermin family comprises conserved affecter N-terminal domain that causes oligomerization, to form channels or pores in plasma membrane [2]. The functional proteins of Gasdermin family have immunoregulatory, cellular growth, and host immune defence [3]. Gasdermin family of protein seem homologous with respect to pore forming N terminal affecter end, this applies to pejvakin protein also [4]. There are many unanswered questions in the pathway, interaction, cellular mechanism of this protein [5]. <strong>Methods</strong> This presentation evaluates the role of pejvakin (DFNB59) protein in the development of post-lingual deafness in the light of extant evidence and uses this protein as a case-study protein in molecular mechanisms that lead to deafness in human beings. <strong>Results</strong> My presentation explicates the behavior of ciliary rootlet protein pejvakin (DFNB59) with homology to gasdermin family in the light of available genetic, molecular, biochemical, and computational evidence. <strong>REFERENCES</strong> [1] Berardino F. and Bruno G. (2021). Is auditory neuropathy an appropriate term? A systematic literature review on its aetiology and pathogenesis, Acta Otorhinolaryngologica Italica, 41, 6, 496–506. [2] Domínguez-Ruiz M. et al. (2022). Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder, Genes, 13, 1. [3] Harris S.L. et al. (2017). Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice, Neuroscience, 344, 380–393. [4] Hashemzadeh Chaleshtori M. et al. (2007). Novel mutations in the pejvakin gene are associated with autosomal recessive nonsyndromic hearing loss in Iranian families, Clinical Genetics, 72, 3, 261–263. [5] Kazmierczak M. et al. (2017). Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair Cell Function in a Cell-Autonomous Manner, The Journal of Neuroscience, 37, 13, 3447–3464.