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Immune Modulatory Function of Human Cytomegalovirus-Encoded UL128 In the Pathogenesis of Infection Related hearing loss

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Immune Modulatory Function of Human Cytomegalovirus-Encoded ...

2014年浙江省检验医学学术年会

作者：郑琪陶然高慧慧徐军赵宁顾伟忠尚世强浙江大学医学院附属儿童医院实验检验中心

Objective Inflammatory cytokines such as tumor necrosis factor(TNF)-a,interleukin(IL)-6 were supposed to participate in the tissue damage of human cytomegalovirus(HCMV)infection related diseases.In our previous study,we proved that recombinant HCMV UL128 protein could recruit peripheral blood monocytes and promote PBMC proliferation through MAPK/ERK transduction pathway.The aim of this study is to evaluate the role of UL128 in the initiation of HCMV related inner ear inflammation.Methods We subjected cochlear epithelial cell line derived from human auditory progenitors to HCMV infection and examined the levels of cytokines released in the co-cultural supernatant of peripheral blood monocytes and HCMV pre-infected cochlear epithelial cells.Since HCMV UL128 protein interferes with virus entry into epithelial cells as well as eliciting primary antibody in vivo,transcription of HCMV UL128 gene was suppressed by short interference RNA in this experiment.Results Human cochlear epithelial cell line cultured in vitro is replicable and permissive for HCMV productive infection.Detection of the co-culture system revealed up-regulation of proinflammatory cytokines including IL-6 and TNF-a in the supernatants.Cytokine analysis revealed that UL128 deficient HCMV got impairment of inducing IL-6 and TNF-a production when interacted with host immune cells.Conclusion HCMV UL128 may serve as a viral immune modulator participating in the pathology of HCMV related hearing loss and UL128 gene can be a potential target for treatment of infection induced immune pathological damage.

关键词： UL128 auditory epithelial cell human cytomegalovirus hearing loss inflammation

Hereditary sensorineural hearing loss in Chiese Rongchang pigs result from promoter mutations in MITF

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Hereditary sensorineural hearing loss in Chiese Rongchang pi...

第七届中国畜牧科技论坛

作者： Chen lei Guo weiwei Zhang tinghuan Zhu dan Jing lan Chen siqing Bai xiaoqing Zhang fengming Wang tao Ge liangpeng Liu zuohua Yang shiming Li ning Wang jingyong Key Laboratory of Pig Industry Sciences(Ministry of Agriculture) Chongqing Academy of Animal Science Department of Otolaryngology Head & Neck SurgeryInstitute of OtolaryngologyChinese PLA General Hospital State Key Laboratory for Agrobiotechnology College of Biological SciencesNational Engineering Laboratory for Animal BreedingChina Agricultural University

(Background) Genesis of novel gene regulatorymodules is largely responsible formorphological and functional evolution.New active c/.s-regulatory elements(CREs) can arise from transposition,promoter switching,co-option or de novo generation.Obviously,the last model,de novo genesis of CREs could be a rare event in genome evolution,due to the odds of creating totally novel CREs aremuch lower than that of altering existing CREs.It is only reported by a sole case in fishes.However,genetic variation drives either new genesis of CREs or phenotypic alteration has not been reported.(Results) Here,we took advantage of a spontaneous hearing loss model found in pigs,and studied the mutation in a non-regulatory region of the melanocyte-specific promoter of microphthalmia-associated transcription factor(MITF) gene.The mutation generated a novel silencer and eliminated expression of MITF-M.This consequently caused the early degeneration of intermediate cells of the cochlear stria vascularis and profound hearing loss,similar to the typical phenotype of Waardenburgsyndrome in humans.We found that the mutation exclusively affected MITF-M,not other isoforms.The essential function of Mitf-m in hearing development was further validated using a knock-out mouse model.(Conclusions) These results demonstrated that dysfunction in the MITF-M isoform alone was sufficient to cause deafness and depigmentation.To our knowledge,this study provides the first evidence of a systemic functional de novo CRE in mammals.

关键词： de novo silencer MITF-M hearing loss Waardenburg syndrome cis-regulatory element pig

Targeted genomic capture and massively parallel sequencing to identify novel mutations causing hereditary hearing loss

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Targeted genomic capture and massively parallel sequencing t...

第十四次全国医学遗传学学术会议

作者： Ti-zhen Yan Ning Tang Xiang-rong Tang Wu-gao Li Zhe-tao Li Shi-qiang Luo Yan Yang Jing-wen Li Ji-wei Huang Key Laboratory of birth defects prevention and control Department of Clinical Laboratory Liuzhou Municipal Maternity and Child Healthcare Hospital Center of hearing Liuzhou Municipal Maternity and Child Healthcare Hospital

Background:Hereditary hearing loss is genetically heterogeneous,and hundreds of mutations in than 60 genes are involved in this disease.Therefore,it is difficult to identify the causative gene mutations involved.In this study,we combined targeted genomic capture and massively parallel sequencing(MPS)to address this issue.Methods:Using targeted genomic capture and MPS,104 genes and three microRNA regions were selected and simultaneously sequenced in 30 unrelated probands of Chinese families with nonsyndromic hearing loss.The results were validated by Sanger sequencing for all available members of the probands’families.To analyze the possible pathogenic functional effects of the variants,three types of prediction programs(SIFT,PROVEAN and Mutation Taster)were used.A total of 200 ethnicity-matched individuals were selected as controls to confirm the candidate mutations.Results:Of the 30 probands,nine had mutations in DFNA genes[WFS1(n=3),COCH(n=2),ACTG1,TMC1(n=2),and POU4F3]known to cause autosomal dominant nonsyndromic hearing loss.These included two novel in-frame indel mutation,six novel missense mutations and one reported missense mutations.Furthermore,one proband from a family with recessive DFNB carried two monoallelic mutations in the SLC26A4 and USH2A genes.All of these mutations co-segregated with the hearing loss phenotype in 40 affected individuals from7 families and were predicted to be pathogenic.Conclusions:Mutations in uncommon deafness genes contribute to a portion of nonsyndromic deafness cases.In the future,critical gene mutations may be accurately and quickly identified in families with hereditary hearing loss by targeted genomic capture and MPS.

关键词： Targeted genomic capture Exome sequencing hearing loss Gene mutation

Chronic otitis media and middle ear variants:Is there relation?

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World Journal of Clinical Cases 2023年第15期11卷 3481-3490页

作者： Fatma Dilek Gokharman Düzgün Can Senbil Sonay Aydin Erdal Karavas Ozge Ozdemir Arzu Gülsah Yalcin Pınar Nercis Kosar Department of Radiology Ankara Training and Research HospitalAnkara 06230Turkey Department of Radiology Erzincan Binali Yildirim UniversityErzincan 24100Turkey Department of Radiology Bandırma 17 Eylül UniversityBalıkesir 10200Turkey

BACKGROUND Chronic otitis media(COM)is an inflammatory disease that lasts for a long time.It is common in developing countries.hearing loss can result from COM.The relationship between variations in middle ear anatomy and COM was investigated in our study.AIM To compare the prevalence of middle ear anatomic variations between the cases with COM and healthy individuals.METHODS This retrospective study included 500 patients with COM and 500 healthy controls.The presence of those variants was determined:Koerner’s septum,facial canal dehiscence,high jugular bulb,jugular bulb dehiscence,jugular bulb diverticulum,sigmoid sinus anterior location and deep tympanic recesses.RESULTS A total of 1000 temporal bones were examined.The incidences of these variants were respectively(15.4%-18.6%),(38.6%-41.2%),(18.2%-4.6%),(2.6%-1.2%),(1.2%-0%),(8.6%-0%),(0%-0%).It was observed that only high jugular bulb(P<0.001)and anteriorly located sigmoid sinus frequencies(P=0.002)in the case group were statistically significantly higher than the control groups.CONCLUSION COM is a multifactorial disease and variants of middle ear have always been important in terms of potential risk for complication during surgery but rarely associated with COM as an etiology or as a consequence of the disease.We didn't find a positive correlation between COM and Koerner’s septum and facial canal defect.We ended up with a significant conclusion with the variants of dural venous sinuses-high jugular bulb,dehiscence of jugular bulb,diverticulum of jugular bulb and anteriorly located sigmoid sinus-that have been studied less and frequently associated with inner ear illnesses.

关键词： Chronic otitis media Radiology Inflammation hearing loss Mastoid cells Head and neck

Otologic and vestibular symptoms in COVID-19:A scoping review

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World Journal of Otorhinolaryngology-Head and Neck Surgery 2022年第4期8卷 287-296页

作者： Kimberly Mae C.Ong Teresa Luisa G.Cruz Philippine National Ear Institute National Institutes of HealthUniversity of the Philippines ManilaManilaPhilippines College of Medicine University of the Philippines ManilaManilaPhilippines Department of Otorhinolaryngology University of the Philippines-Philippine General HospitalManilaPhilippines

Background:Otologic and vestibular symptoms have been seen in patients confirmed to have COVID-19 disease.Further discussion of these symptoms may provide insight into short-and long-term management for these patients.Objective:The aim of this review was to describe the otologic and vestibular symptoms that present in patients with COVID-19.The primary outcomes of this review were onset,duration and clinical outcomes of these symptoms.Sources of Evidence:Pub Med,APAMed Central,Herdin,CINAHL,Scopus,Springer Link,ProQuest Coronavirus Research Database,and Google Scholar were searched for the articles to be included.Eligibility Criteria:Studies included were those involving adult patients diagnosed with COVID-19 who experienced hearing loss,ear pain,ear discharge,otitis media,vertigo,or tinnitus.Studies were eligible for inclusion if there was a description of the otologic dysfunction,specifically onset,duration,or clinical outcomes.Results:The majority of patients who experienced hearing loss(68%),tinnitus(88%),vertigo/dizziness(30%),ear pain(8%),and discharge(100%)did so within a month of experiencing the typical symptoms of COVID-19.A majority also experienced complete resolution of their symptoms within 2 weeks.Standard treatment for COVID-19 was usually provided but when specific diagnoses are made for these symptoms(e.g.,sudden sensorineural hearing loss,otitis media,vestibular neuritis),they are treated in the same manner as one would for non-COVID-19 cases,in addition to the management for COVID-19.In certain cases,there may be a need for additional work-up to rule out other causes.Conclusions:Otologic and vestibular symptoms were present in COVID-19 patients,majority as part of the systemic nature of the disease.The onset,duration,and course were consistent with the natural history of a systemic viral infection.COVID-19 should be considered in any patient with a new-onset hearing loss,tinnitus,or vertigo/dizziness,even in the absence of infectious or respiratory symptoms.

关键词： COVID-19 dizziness hearing loss tinnitus vertigo

A case of Landau-Kleffner syndrome with SLC26A4-related hearing impairment

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Acta Epileptologica 2022年第1期5卷 57-61页

作者： Pan Gong Xianru Jiao Zhixian Yang Department of Pediatrics Peking University First HospitalNo.1Beijing 100034China

Background:Landau-Kleffner syndrome(LKS)is an acquired aphasia and electroencephalogram(EEG)abnormalities mainly in temporoparietal areas.SLC26A4 mutations can cause hearing loss associated with enlarged vestibular aqueduct(EVA).Case presentations:We report a case of LKS in a 5-year-old boy with non-syndromic EVA due to homozygous mutations of c.919-2A>G(IVS7-2A>G)in SLC26A4.He had normal language development before 2 years old.At the age of 2.5 years,he was admitted to the hospital due to remarkable language delay,and diagnosed with hearing loss with EVA.The seizures started at 4.4 years of age and EEG recording showed electrical status epilepticus during sleep(ESES)with a posterior-temporal predominance.He received cochlear implantation in the right ear at 4.7 years of age,which improved his hearing and language skills.The nocturnal focal motor seizures recurred at 4.9 years of age.Then a remarkable inability to respond to calls and reduction in spontaneous speech were noticed.He was treated with methylprednisolone at 5 years old,which controlled the seizures,suppressed ESES,and remarkably improved the language ability.The absence of seizures maintained until the last follow-up at 5.3 years of age,with further improvements in EEG recording and language ability.Conclusions:The co-existence of LKS and hearing loss caused by SLC26A4 mutations increases the difficulty of LKS diagnosis,especially in the presence of hearing loss and impaired language skills.EEG discharges predominantly in temporoparietal areas,the occurrence of ESES,and language improvement after antiepileptic medications are potential indicators for LKS diagnosis.

关键词： SLC26A4 Epilepsy Landau-Kleffner syndrome hearing loss

The genetic basis of deafness in populations of African descent

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Journal of Genetics and Genomics 2017年第6期44卷 285-294页

作者： Jason R.Rudman Rosemary I.Kabahuma Sara E.Bressler Yong Feng Susan H.Blanton Denise Yan Xue-Zhong Liu Department of Otolaryngology University of Miami Miller School of Medicine Department of Otorhinolaryngology Steve Biko Academic HospitalUniversity of Pretoria Department of Otolaryngology Xiangya HospitalCentral South University Dr. John T.Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine John P.Hussman Institute for Human Genomics University of Miami Miller School of Medicine

hearing loss is the most common sensorineural disorder worldwide and is associated with more than1000 mutations in more than 90 genes. While mutations in genes such as GJB2(gap-junction protein β 2)and GJB6(gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing(NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3α in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost-and timeeffective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.

关键词： Genetic hearing loss Deafness African

Mechanism of alpha-lipoic acid in attenuating kanamycin-induced ototoxicity

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Neural Regeneration Research 2012年第35期7卷 2793-2800页

作者： Aimei Wang Ning Hou Dongyan Bao Shuangyue Liu Tao Xu Department of Physiology Liaoning Medical University Scientific Laboratorial Center Liaoning Medical University

In view of the theory that alpha-lipoic acid effectively prevents cochlear cells from injury caused by various factors such as cisplatin and noise, this study examined whether alpha-lipoic acid can prevent kanamycin-induced ototoxicity. To this end, healthy BALB/c mice were injected subcutaneously with alpha-lipoic acid and kanamycin for 14 days. Auditory brainstem response test showed that increased auditory brainstem response threshold shifts caused by kanamycin were significantly inhibited. Immunohistochemical staining and western blot analysis showed that the expression of phosphorylated p38 mitogen-activated protein kinase and phosphorylated c-Jun N-terminal kinase in mouse cochlea was significantly decreased. The experimental findings suggest that phosphorylated p38 and phosphorylated c-Jun N-terminal kinase mediated kanamycin-induced ototoxic injury in BALB/c mice. AIpha-lipoic acid effectively attenuated kanamycin ototoxicity by inhibiting the kanamycin-induced high expression of phosphorylated p38 and phosphorylated c-Jun N-terminal kinase.

关键词： alpha-lipoic acid kanamycin mouse cochlea p38 mitogen-activated protein kinase c-JunN-terminal kinase auditory brainstem response phosphorylation hearing loss western blot immunohistochemistry

A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type Ⅱ

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Journal of Genetics and Genomics 2011年第12期38卷 585-591页

作者： Xukun Yan Tianyu Zhang Zhengmin Wang Yi Jiang Yan Chen Hongyan Wang Duan Ma Lei Wang Huawei Li Department of Otolaryngology Eye ＆ ENT Hospital Fudan University 83 Fenyang Road Shanghai 200031 China Department of Otolaryngology PLA General Hospital 28 Fuxing Road Beijing 100853 China Department of Ophthalmology Pudong Hospital 1800 Yuntai Road Shanghai 200125 China Central Laboratory Eye ＆ ENT Hospital Fudan University 83 Fenyang Road Shanghai 200031China Institutes of Biomedical Sciences Fudan University 138 Yixueyuan Road Shanghai 200032 China

Waardenburg syndrome typeⅡ（WS2） is associated with syndromic deafness.A subset of WS2,WS2A,accounting for approximately 15%of patients,is attributed to mutations in the microphthalmia-associated transcription factor（MITF） gene.We examined the genetic basis of WS2 in a large Chinese family.All 9 exons of the MITF gene,the single coding exon（exon 2） of the most common hereditary deafness gene GJB2 and the mitochondrial DNA（mtDNA） 12S rRNA were sequenced.A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA]in exon 8 of the MITF gene co-segregates with WS2 in the family.The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids.The deaf proband had this MITF gene heterozygous mutation as well as a c.[109G〉A]＋ [235delC]compound heterozygous pathogenic mutation in the GJB2 gene.No pathogenic mutation was found in mtDNA 12S rRNA in this family.Thus,a novel compound heterozygous mutation,c.[742_743delAAinsT;746_747delCA]in MITF exon 8 was the key genetic reason for WS2 in this family,and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband.

关键词： Waardenburg syndrome typeⅡ hearing loss MITF GJB2 Mutation