PJVK

Last update 08 May 2025

Basic Info

Synonyms

Autosomal recessive deafness type 59 protein, DFNB59, pejvakin

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Introduction

Peroxisome-associated protein required to protect auditory hair cells against noise-induced damage. Acts by regulating noise-induced peroxisome proliferation in auditory hair cells and neurons, and promoting autophagic degradation of damaged peroxisomes (pexophagy). Noise overexposure increases reactive oxygen species (ROS) levels, causing oxidative damage to auditory hair cells and resulting in hearing loss. PJVK acts as a ROS sensor that recruits the autophagy machinery to trigger pexophagy of peroxisomes damaged by oxidative stress. In addition to pexophagy, also required to promote peroxisome proliferation in response to sound overstimulation.

100 Clinical Results associated with PJVK

100 Translational Medicine associated with PJVK

0 Patents (Medical) associated with PJVK

Literatures (Medical) associated with PJVK

01 Jan 2025·Heliyon

Comprehensive analyses reveal the promising value of gasdermins as prognostic biomarkers and immunotherapeutic targets in head and neck squamous cell carcinoma

Article

Author: Deng, Xinyi ; Hong, Huangming ; Huang, Huageng ; Lin, Tongyu ; Huang, He ; Tian, Ying ; Wang, Zhao ; Lu, Shunzhen ; Ge, Jingjing ; Yao, Yuyi

BackgroundIn several studies of head and neck squamous cell carcinoma (HNSC), the regulation of tumorigenesis and therapeutic sensitivity by pyroptosis has been observed. However, a systematic analysis of gasdermin family members (GSDMs, including GSDMA/B/C/D/E and PJVK), which are deterministic executors of pyroptosis, has not yet been reported in HNSC.MethodsWe performed comprehensive analyses of the expression profile, prognostic value, regulatory network, and immune infiltration modulation of GSDMs in HNSC on the basis of a computational approach and bioinformatic analysis of publicly available datasets.ResultsA total of 18.65 % (94/504) of HNSC patients harbored GSDM alterations, with the most dominant type being amplification. Compared with those in normal tissues, the mRNA and protein levels of GSDMs, especially GSDMD/E, were commonly elevated in HNSC (P < 0.05). Additionally, the expression of GSDMs differed significantly between the clinicopathological subgroups of HNSC patients. Overall survival of HNSC patients benefited from increased GSDMC expression (HR = 0.67, P = 0.0053) and decreased GSDME expression (HR = 1.42, P = 0.0140). Regulatory network analysis revealed several essential biological processes associated with GSDMs, including positive regulation of cytokine production involved in the immune response. Notably, almost all infiltrating immune cells and immune checkpoints were negatively correlated with GSDMA/C/E expression and positively related to GSDMB/D and PJVK expression.ConclusionsWe indicated the potential role of GSDMs (especially GSDME) in HNSC pathogenesis, progression and response to immunotherapy, providing important evidence for further prospective studies and molecular mechanism exploration.

01 Jan 2025·Human Genetics and Genomics Advances

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali

Article

Author: de Kock, Carmen ; Esoh, Kevin ; Landouré, Guida ; Bamba, Salia ; Jonas, Mario ; Traoré, Oumou ; Bharadwaj, Thashi ; Schrauwen, Isabelle ; Cissé, Cheick A K ; Wonkam, Ambroise ; Fortes-Lima, Cesar A ; Yalcouyé, Abdoulaye ; Maiga, Alassane Dit Baneye ; Aboagye, Elvis Twumasi ; Latanich, Rachel ; Leal, Suzanne M ; Acharya, Anushree ; Guinto, Cheick O ; Sangaré, Moussa A

Hearing impairment (HI) is the most common neurosensory disorder globally and is reported to be more prevalent in low-income countries. In high-income countries, up to 50% of congenital childhood HI is of genetic origin. However, there are limited genetic data on HI from sub-Saharan African populations. In this study, we investigated the genetic causes of HI in the Malian populations, using whole-exome sequencing. Furthermore, cDNA was transfected into HEK293T cells for localization and expression analysis in a candidate gene. Twenty-four multiplex families were enrolled, 50% (12/24) of which are consanguineous. Clustering methods showed patterns of admixture from non-African sources in some Malian populations. Variants were found in six known nonsyndromic HI (NSHI) genes, four genes that can underlie either syndromic HI (SHI) or NSHI, one SHI gene, and one novel candidate HI gene. Overall, 75% of families (18/24) were solved, and 94.4% (17/18) had variants in known HI genes including MYO15A, CDH23, MYO7A, GJB2, SLC26A4, PJVK, OTOGL, TMC1, CIB2, GAS2, PDCH15, and EYA1. A digenic inheritance (CDH23 and PDCH15) was found in one family. Most variants (59.1%, 13/22) in known HI genes were not previously reported or associated with HI. The UBFD1 candidate HI gene, which was identified in one consanguineous family, is expressed in human inner ear organoids. Cell-based experiments in HEK293T showed that mutants UBFD1 had a lower expression, compared to wild type. We report the profile of known genes and the UBFD1 candidate gene for HI in Mali and emphasize the potential of gene discovery in African populations.

01 Dec 2024·Clinical Genetics

Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis

Article

Author: Aval, Majid Hadadi ; Saburi, Ehsan ; Afzalzadeh, Mohammad Reza ; Eslahi, Atieh ; Pasdar, Alireza ; Vona, Barbara ; Alerasool, Masoome ; Ardehaie, Reza Mousavi ; Rajati, Mohsen ; Kahaei, Mir Salar ; Nourizadeh, Navid ; Niknezhad, Hamid Tayarani ; Mojarrad, Majid ; Ghasemi, Mohammad Mehdi ; Tale, Mohammad Reza ; Mojaver, Nasrin Kaseb

AbstractHearing loss is one of the most prevalent genetic disorders in humans. Locus and allelic heterogeneity cause fundamental challenges in hearing loss genetic diagnosis and management of patients and their families. This study examined the genetic profile of patients with prelingual hearing loss who were referred to the Genetic Foundation of Khorasan Razavi spanning over a decade. Deleterious variants in GJB2 were evaluated through Sanger sequencing among 745 non‐syndromic hearing loss patients. Furthermore, exome sequencing was applied in 250 patients with negative GJB2 sequencing results and 30 patients with syndromic hearing loss. The findings revealed a relatively low frequency of GJB2 variants among the studied patients. Exome sequencing successfully identified the genetic causes of hearing loss in 70% of the patients. Moreover, variants in 10 genes, namely SLC26A4, MYO15A, TMPRSS3, TMC1, OTOF, CDH23, PJVK, MYO7A, TECTA, and PCDH15, accounted for 66% of the positive exome sequencing findings in this study. At least three prevalent founder alleles in the hearing‐impaired population of eastern Iran were identified. This study emphasizes the efficiency of exome sequencing as a powerful tool for determining the etiology of prelingual hearing loss in the eastern Iranian population.

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PJVK

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