Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families

Salime, Sara; Charif, Majida; Bousfiha, Amale; Elrharchi, Soukaina; Bakhchane, Amina; Charoute, Hicham; Kabine, Mostafa; Snoussi, Khalid; Lenaers, Guy; Barakat, Abdelhamid

doi:10.1016/j.ijporl.2017.07.024

Cited by 18 publications

(11 citation statements)

References 34 publications

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“…PJVK encoded by DFNB59 , is a protein (352 residues) which is distantly related to other GSDM protein family members. 19 , 179 PJVK expression has been found in outer hair cells, as well as supporting cells, hair cells, and cell bodies of spiral ganglion neurons (SGNs) in the inner ear. 25 , 26 PJVK is also critical for protection of the architecture of stereocilia and the function of hair cells and SGNs.…”

Section: The Mechanism Of the Pyroptosis Pathwaymentioning

confidence: 99%

Section: The Mechanism Of the Pyroptosis Pathwaymentioning

confidence: 99%

“…DFNB59 , also known as Pejvakin ( PJVK ), is located on human chromosome 2q31.2 and comprises seven exons, 179 while Dfnb59 , also known as Pjvk is found on mouse chromosome 2C3. PJVK encoded by DFNB59 , is a protein (352 residues) which is distantly related to other GSDM protein family members 19,179 . PJVK expression has been found in outer hair cells, as well as supporting cells, hair cells, and cell bodies of spiral ganglion neurons (SGNs) in the inner ear 25,26 .…”

Section: The Mechanism Of the Pyroptosis Pathwaymentioning

confidence: 99%

“…Given that GSDME is also expressed in normal cells and tissues, chemotherapy drug-induced pyroptosis might also cause damage to the host, 36,177,178 while 2-bromopalmitate might inhibit chemotherapy-induced pyroptosis. 178 2.2.6 DFNB59/PJVK DFNB59, also known as Pejvakin (PJVK), is located on human chromosome 2q31.2 and comprises seven exons, 179 while Dfnb59, also known as Pjvk is found on mouse chromosome 2C3. PJVK encoded by DFNB59, is a protein (352 residues) which is distantly related to other GSDM protein family members.…”

Section: Gsdme/dfna5mentioning

confidence: 99%

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Pyroptosis, metabolism, and tumor immune microenvironment

Gao

et al. 2021

Clinical & Translational Med

178

121

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In response to a wide range of stimulations, host cells activate pyroptosis, a kind of inflammatory cell death which is provoked by the cytosolic sensing of danger signals and pathogen infection. In manipulating the cleavage of gasdermins (GSDMs), researchers have found that GSDM proteins serve as the real executors and the deterministic players in fate decisions of pyroptotic cells. Whether inflammatory characteristics induced by pyroptosis could cause damage the host or improve immune activity is largely dependent on the context, timing, and response degree. Here, we systematically review current points involved in regulatory mechanisms and the multidimensional roles of pyroptosis in several metabolic diseases and the tumor microenvironment. Targeting pyroptosis may reveal potential therapeutic avenues.

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Section: The Mechanism Of the Pyroptosis Pathwaymentioning

confidence: 99%

Section: The Mechanism Of the Pyroptosis Pathwaymentioning

confidence: 99%

Section: The Mechanism Of the Pyroptosis Pathwaymentioning

confidence: 99%

Section: Gsdme/dfna5mentioning

confidence: 99%

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Pyroptosis, metabolism, and tumor immune microenvironment

Gao

et al. 2021

Clinical & Translational Med

178

121

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“…Similar to GSDME (DFNA5), mutations in PJVK are associated with HL in both humans and mice (20,32,65). Unlike the gain-offunction mutation of GSDME (DFNA5), all known mutations in PJVK are associated with autosomal recessive on syndromic sensorineural HL with or without cochlear dysfunction (32,(134)(135)(136). In mice, functional PJVK is necessary to enable existing peroxisomes to proliferate and protect the cochlear sensory hair cells and auditory neurons from noise-induced generation of reactive oxidative species (115).…”

Section: Non-syndromic Hearing Impairmentmentioning

confidence: 99%

The Versatile Gasdermin Family: Their Function and Roles in Diseases

et al. 2021

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The gasdermin (GSDM) family, a novel group of structure-related proteins, consists of GSDMA, GSDMB, GSDMC, GSDMD, GSDME/DNFA5, and PVJK/GSDMF. GSDMs possess a C-terminal repressor domain, cytotoxic N-terminal domain, and flexible linker domain (except for GSDMF). The GSDM-NT domain can be cleaved and released to form large oligomeric pores in the membrane that facilitate pyroptosis. The emerging roles of GSDMs include the regulation of various physiological and pathological processes, such as cell differentiation, coagulation, inflammation, and tumorigenesis. Here, we introduce the basic structure, activation, and expression patterns of GSDMs, summarize their biological and pathological functions, and explore their regulatory mechanisms in health and disease. This review provides a reference for the development of GSDM-targeted drugs to treat various inflammatory and tissue damage-related conditions.

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Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys

Said

Ayed

Elloumi

et al. 2022

Molec Gen & Gen Med

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Background In the Tunisian population, the molecular analysis of hearing impairment remains based on conventional approaches, which makes the task laborious and enormously expensive. Exploration of the etiology of Hearing Impairment and the early diagnosis of causal mutations by next‐generation sequencing help significantly alleviate social and economic problems. Methods We elaborated a custom SureSelectQXT panel for next‐generation sequencing of the coding sequences of 42 genes involved in isolated hearing impairment or along with defects of the retina, the thyroid, and the kidneys. Results We report eight pathogenic variants, four of which are novel in patients with isolated hearing impairment, hearing impairment, and renal tubular acidosis, Usher syndrome and Pendred syndrome. Functional studies using molecular modeling showed the severe impact of the novel missense mutations on the concerned proteins. Basically, we identified mutations in nuclear as well as mitochondrial genes in a Tunisian family with isolated hearing impairment, which explains definitely the phenotype detected since 2006. Conclusion Our results expanded the mutation spectrum and genotype‒phenotype correlation of isolated and syndromic hearing loss and also emphasized the importance of combining both targeted next‐generation sequencing and detailed clinical evaluation to elaborate a more accurate diagnosis for hearing impairment and related phenotypes especially in North African populations.

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Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families

Cited by 18 publications

References 34 publications

Pyroptosis, metabolism, and tumor immune microenvironment

Pyroptosis, metabolism, and tumor immune microenvironment

The Versatile Gasdermin Family: Their Function and Roles in Diseases

Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys

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