MP12-Otología y Otoneurología

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El vértigo recurrente es un problema de salud muy frecuente que se origina por un trastorno del sistema vestibular. Las causas más frecuentes son el vértigo posicional paroxístico benigno, la migraña vestibular y la enfermedad de Ménière. Entre estos, la enfermedad de Menière es la forma más severa de vértigo y acúfenos incapacitantes. La enfermedad de Menière (EM) es un trastorno crónico multifactorial del oído interno que produce hipoacusia neurosensorial progresiva, episodios de vértigo recurrente y acúfenos con una prevalencia de 75 casos/100.000 habitantes en España. La EM familiar representa el 8-9% de los casos y presenta heterogeneidad genética con patrones de herencia autosómico dominante, recesivo y mitocondrial. Nuestro grupo ha reunido la mayor colección de muestras de ADN humano de pacientes con EM incluyendo > 100 familias multicaso y >2000 casos esporádicos con el objetivo de identificar los genes asociados a la EM. Para esto hemos realizado genotipado en los casos esporádicos habiendo definido variantes comunes en regiones no codificantes, así como secuenciación del exoma completo en las familias multicaso para identificar variantes muy raras o de novo con penetrancia elevada en regiones codificantes. Los resultados han identificado varios loci en el cromosoma 6p21.33 en los casos con afectación de ambos oídos que podrían definir la enfermedad autoinmune del oído interno. Además, hemos definido mutaciones nuevas para la EM familiar en los genes FAM136A, PRKCB, DTNA, DPT y SEMA3D en tres familias con herencia autosómica dominante. Actualmente, estamos desarrollando un modelo celular de enfermedad mediante células madre para evaluar el papel funcional de estos genes. PALABRAS CLAVE: Meniere disease/vestibular disorders/ genomics/exome sequencing/stem cells/ autoinmune inner ear disease

Líneas de investigación

Línea 1- Arquitectura genómica de la enfermedad de Menière esporádica.
Línea 2- Identificación de genes asociados a enfermedad de Menière familiar.
Línea 3- Mecanismos moleculares en la enfermedad autoinmune/autoinflamatoria del oído interno.
Línea 4- Desarrollo de un modelo celular de enfermedad de Menière
Línea 5- Bases moleculares de la hiperacusia y acúfenos en la enfermedad de Menière.
Línea 6- Bases genéticas de la ataxia cerebelosa, neuropatía periférica y arreflexia vestibular (CANVAS)

Palabras clave

vertigo, tinnitus, Meniere disease, vestibular migraine, sequencing, autoimmunity, autoinflammation, molecular diagnosis, mechanisms of disease

LIDIA FREJO NAVARRO

PAULA ROBLES BOLIVAR

ALBA ESCALERA BALSERA

SANTIAGO ORTIZ PEREZ

ORCID

PATRICIA PEREZ CARPENA

PABLO ROMAN-NARANJO VARELA

JUAN MANUEL ESPINOSA SANCHEZ

MARISA FLOOK PEREIRA

ALVARO GALLEGO MARTINEZ

JUAN GARCIA VALDECASAS

ELISHEBA DEL MAR HARO HERNANDEZ

JOSE ANTONIO LOPEZ ESCAMEZ

MARTA MARTINEZ MARTINEZ

ESTRELLA MARTINEZ GOMEZ

MARIA JESUS MARTINEZ MARTINEZ

MARIA MATA FERRON

MARIA DEL CARMEN MOLEON GONZALEZ

ORCID

SANA AMANAT ALI

ORCID

Flook, M; Frejo, L; Gallego-Martinez, A; Martin-Sanz, E; Rossi-Izquierdo, M; Amor-Dorado, JC; Soto-Varela, A; Santos-Perez, S; Batuecas-Caletrio, A; Espinosa-Sanchez, JM; Perez-Carpena, P; Martinez-Martinez, M; Aran, I; Lopez-Escamez, JA

Differential Proinflammatory Signature in Vestibular Migraine and Meniere Disease

FRONTIERS IN IMMUNOLOGY, 2019;

FI:4,716; Q2

Gallego-Martinez, A; Requena, T; Roman-Naranjo, P; Lopez-Escamez, JA; Amor-Dorado, JC; Aran, I; Batuecas-Caletrio, A; Benitez, J; Fraile, J; Garcia-Arumi, A; Gonzalez-A, R; Espinosa-Sanchez, JM; Huarte, RM; Perez-Fernandez, N; Marques, P; Sanz, R; Dominguez, MO; Teggi, R

Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease

FRONTIERS IN GENETICS, 2019;

FI:3,517; Q2

Domenech-Vadillo, E; Aguilera-Aguilera, G; Sanchez-Blanco, C; Batuecas-Caletrio, A; Guajardo, C; Perez, N; Trinidad-Ruiz, G; Gimeno, C; Rama, J; Rossi-Izquierdo, M; San-Roman-Rodriguez, E; Patino-Castineira, B; Espinosa-Sanchez, JM; Matino, E; Barona, R; Krstulovic, C; Benitez-Rosario, J; Santandreu, E; Maia, FCZE; de Sande, MGAM; Valldeperes, A; Rey-Martinez, J

Normative data for static balance testing in healthy individuals using open source computerized posturography

EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY, 2019;

FI:1,75; Q2

Strupp, M; Mandala, M; Lopez-Escamez, JA

Peripheral vestibular disorders: an update

CURRENT OPINION IN NEUROLOGY, 2019;

FI:4,647; Q1

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Sepanski, R; Sharma, N; Singh, M; Spearman, P; Subramaniapillai, M; Swali, R; Tan, CM; Tellechea, JI; Thomas, LM; Tong, X; Veys, R; Vitriol, V; Wang, HD; Wang, JH; Wang, JC; Waugh, J; Webb, SA; Williams, BA; Workman, AD; Xiang, TX; Xie, LX; Xu, J; Xu, TS; Yang, CJ; Yoon, JG; Yuan, CM; Zaritsky, A; Zhang, Y; Zhao, HC; Zuckerman, HN; Lyu, R; Pullan, W; Zhou, YQ

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION, 2019;

FI:3,683; Q1

Rey-Martinez, J; Thomas-Arrizabalaga, I; Espinosa-Sanchez, JM; Batuecas-Caletrio, A; Trinidad-Ruiz, G; Matino-Soler, E; Perez-Fernandez, N

Vestibulo-ocular reflex gain values in the suppression head impulse test of healthy subjects

LARYNGOSCOPE, 2018;

FI:2,442; Q2

Teggi, R; Colombo, B; Albera, R; Libonati, GA; Balzanelli, C; Caletrio, AB; Casani, A; Espinoza-Sanchez, JM; Gamba, P; Lopez-Escamez, JA; Lucisano, S; Mandala, M; Neri, G; Nuti, D; Pecci, R; Russo, A; Martin-Sanz, E; Sanz, R; Tedeschi, G; Torelli, P; Vannucchi, P; Comi, G; Bussi, M

Clinical Features, Familial History, and Migraine Precursors in Patients With Definite Vestibular Migraine: The VM-Phenotypes Projects

HEADACHE, 2018;

FI:3,091; Q2

Teggi, R; Colombo, B; Albera, R; Libonati, GA; Balzanelli, C; Caletrio, AB; Casani, AP; Espinosa-Sanchez, JM; Gamba, P; Lopez-Escamez, JA; Lucisano, S; Mandala, M; Neri, G; Nuti, D; Pecci, R; Russo, A; Martin-Sanz, E; Sanz, R; Tedeschi, G; Torelli, P; Vannucchi, P; Comi, G; Bussi, M

Clinical Features of Headache in Patients With Diagnosis of Definite Vestibular Migraine: The VM-Phenotypes Projects

FRONTIERS IN NEUROLOGY, 2018;

FI:3,508; Q2

Lopez-Escamez, JA; Manrique-Huarte, R; Martin-Sanz, E; Trinidad, G

Analysis of scientific production in otolaryngology in Spain in the period 2011-2015

ACTA OTORRINOLARINGOLOGICA ESPANOLA, 2018;

Ahmad, H; Requena, T; Frejo, L; Cobo, M; Gallego-Martinez, A; Martin, F; Lopez-Escamez, JA; Bronstein, AM

Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family

FRONTIERS IN GENETICS, 2018;

FI:4,151; Q1

Requena, T; Gallego-Martinez, A; Lopez-Escamez, JA

A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets

HUMAN GENOMICS, 2017;

FI:3,327; Q2

Lopez-Escamez, JA; Carey, J; Chung, WH; Goebel, JA; Magnusson, M; Mandala, M; Newman-Toker, DE; Strupp, M; Suzuki, M; Trabalzini, F; Bisdorff, A

Diagnostic criteria for Meniere’s disease according to the Classification Committee of the Barany Society

HNO, 2017;

FI:0,723; Q4

Strupp, M; Lopez-Escamez, JA; Kim, JS; Straumann, D; Jen, JC; Carey, J; Bisdorff, A; Brandt, T

Vestibular paroxysmia: Diagnostic criteria

JOURNAL OF VESTIBULAR RESEARCH-EQUILIBRIUM & ORIENTATION, 2017;

FI:0,9; Q4

Perez-Vazquez,P; Franco-Gutierrez V; Soto-Varela, A; Amor-Dorado, JC; Martin-Sanz, E; Oliva-Dominguez, M; Lopez-Escamez, JA

Practice Guidelines for the Diagnosis and Management of Benign Paroxysmal Positional Vertigo Otoneurology Committee of Spanish Otorhinolaryngology and Head and Neck Surgery Consensus Document

ACTA OTORRINOLARINGOLOGICA ESPANOLA, 2017;

Frejo, L; Requena, T; Okawa, S; Gallego-Martinez, A; Martinez-Bueno, M; Aran, I; Batuecas-Caletrio, A; Benitez-Rosario, J; Espinosa-Sanchez, JM; Fraile-Rodrigo, JJ; Garcia-Arumi, AM; Gonzalez-Aguado, R; Marques, P; Martin-Sanz, E; Perez-Fernandez, N; Perez-Vazquez, P; Perez-Garrigues, H; Santos-Perez, S; Soto-Varela, A; Tapia, MC; Trinidad-Ruiz, G; del Sol, A; Riquelme, MEA; Lopez-Escamez, JA

Regulation of Fn14 Receptor and NF-kappa B Underlies Inflammation in Meniere’s Disease

FRONTIERS IN IMMUNOLOGY, 2017;

FI:6,429; Q1

Frejo, L; Soto-Varela, A; Santos-Perez, S; Aran, I; Batuecas-Caletrio, A; Perez-Guillen, V; Perez-Garrigues, H; Fraile, J; Martin-Sanz, E; Tapia, MC; Trinidad, G; Garcia-Arumi, AM; Gonzalez-Aguado, R; Espinosa-Sanchez, JM; Marques, P; Perez, P; Benitez, J; Lopez-Escamez, JA

Clinical Subgroups in Bilateral Meniere Disease

FRONTIERS IN NEUROLOGY, 2016;

FI:3,184; Q2

Lopez-Escamez, JA; Bibas, T; Cima, RFF; Van de Heyning, P; Knipper, M; Mazurek, B; Szczepek, AJ; Cederroth, CR

Genetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug Development

FRONTIERS IN NEUROSCIENCE, 2016;

FI:3,398; Q2

Perez, P; Franco, V; Oliva, M; Lopez-Escamez, JA

A Pilot Study Using Intratympanic Methylprednisolone for Treatment of Persistent Posterior Canal Benign Paroxysmal Positional Vertigo

JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY, 2016;

FI:0,123; Q4

Martin-Sierra, C; Requena, T; Frejo, L; Price, SD; Gallego-Martinez, A; Batuecas-Caletrio, A; Santos-Perez, S; Soto-Varela, A; Lysakowski, A; Lopez-Escamez, JA

A novel missense varint in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere’s disease

HUMAN MOLECULAR GENETICS, 2016;

FI:5,985; D1

Cabrera, S; Ji, AR; Frejo, L; Ramos-Mejia, V; Romero, T; Real, P; Lopez-Escamez, JA

Generation of human iPSC line GRX-MCiPS4F-A2 from adult peripheral blood mononuclear cells (PBMCs) with Spanish genetic background

STEM CELL RESEARCH, 2015;

FI:3,693; Q1

Montes, R; Romero, T; Cabrera, S; Ayllon, V; Lopez-Escamez, JA; Ramos-Mejia, V; Real, PJ

Generation and characterization of the human iPSC line PBMC1-iPS4F1 from adult peripheral blood mononuclear cells

STEM CELL RESEARCH, 2015;

FI:3,693; Q1

Lopez-Escameza, JA; Carey, J; Chung, WH; Goebel, JA; Magnusson, M; Mandala, M; Newman-Toker, DE; Strupp, M; Suzuki, M; Trabalzini, F; Bisdorff, A

Diagnostic criteria for Meniere’s disease

JOURNAL OF VESTIBULAR RESEARCH-EQUILIBRIUM & ORIENTATION, 2015;

FI:1,19; Q3

HEARING 2016 – Identification of novel variants in familial Meniere’s disease by whole-genome sequencing

Financiador: ACTION ON HEARING LOSS

Número de expediente: HEARING-2016-F69

Tiempo de ejecución: 01/09/2016 - 31/10/2016

IP: HEARING 2016 – Identification of novel variants in familial Meniere’s disease by whole-genome sequencing

MENIERE SOCIETY 2016-2017 LOPEZ ESCAMEZ

Financiador: MÉNIÈRE’S SOCIETY

Número de expediente: MENIERE SOCIETY 2016-2017

Tiempo de ejecución: 01/09/2016 - 31/08/2017

IP: JOSE ANTONIO LOPEZ ESCAMEZ

Validación de un marcador genético regulador de la inflamación para el diagnóstico de enfermedad de Meniere autoinmune (DIEMA)

Financiador: FUNDACIÓN PÚBLICA PARA LA INVESTIGACIÓN BIOSANITARIA DE ANDALUCIA ORIENTAL ALEJANDRO OTERO (FIBAO)

Número de expediente: INB-0007

Tiempo de ejecución: 10/06/2017 - 10/06/2019

IP: Validación de un marcador genético regulador de la inflamación para el diagnóstico de enfermedad de Meniere autoinmune (DIEMA)

Validación de Marcadores Genéticos para el Diagnóstico de Enfermedad de Meniere Autoinmune (Diema)

Financiador: CONSEJERÍA DE SALUD

Número de expediente: PIN-0105-2017

Tiempo de ejecución: 01/01/2018 - 31/12/2020

IP: JOSE ANTONIO LOPEZ ESCAMEZ

Papel de la variante reguladora rs4947296 y la respuesta proinflamatoria en la Enfermedad de Meniere

Financiador: INSTITUTO DE SALUD CARLOS III

Número de expediente: PI17/01644

Tiempo de ejecución: 01/01/2018 - 31/12/2020

IP: JOSE ANTONIO LOPEZ ESCAMEZ

TIGER – The combined role of genetic and environmental risk factors in the gender-specific development of severe tinnitus

Financiador: FUNDACIÓN LA CAIXA

Número de expediente: GENDERNET2018-007

Tiempo de ejecución: 01/01/2019 - 31/12/2021

IP: JOSE ANTONIO LOPEZ ESCAMEZ

IN VITRO CLINICAL TRIAL WITH BIIB023 AND MONITORING OF CLINICAL RESPONSE IN MENIERE DISEASE (CLIMON-MD)

Financiador: FUNDACIÓN PÚBLICA PARA LA INVESTIGACIÓN BIOSANITARIA DE ANDALUCIA ORIENTAL ALEJANDRO OTERO (FIBAO)

Número de expediente: PE-0356-2018

Tiempo de ejecución: 01/01/2019 - 31/12/2022

IP: JOSE ANTONIO LOPEZ ESCAMEZ

UNITI – Unification of treatments and Interventions for Tinnitus patients

Financiador: Comisión Europea

Número de expediente: UNITI H2020

Tiempo de ejecución: 01/01/2020 - 31/12/2022

IP: JOSE ANTONIO LOPEZ ESCAMEZ

Estudio multicentrico, aleatorizado, doble ciego y controlado conplacebo para evaluar la eficacia y la seguridad de 2 pautas posologicas de SENS-111 (100mg y 200mg) administradas por via oral durante 4 dias en pacientes que padecen de vestibulopatia unilateral aguda

Financiador: 4SENSORION

Tipo de prueba: ENSAYO CLINICO COMERCIAL

Tiempo de ejecución: 17/09/2018 - 30/09/2019

IP: JOSE ANTONIO LOPEZ ESCAMEZ

MP12-Otología y Otoneurología

Líneas de investigación

Palabras clave

LIDIA FREJO NAVARRO

PAULA ROBLES BOLIVAR

ALBA ESCALERA BALSERA

SANTIAGO ORTIZ PEREZ

PATRICIA PEREZ CARPENA

PABLO ROMAN-NARANJO VARELA

JUAN MANUEL ESPINOSA SANCHEZ

MARISA FLOOK PEREIRA

ALVARO GALLEGO MARTINEZ

JUAN GARCIA VALDECASAS

ELISHEBA DEL MAR HARO HERNANDEZ

JOSE ANTONIO LOPEZ ESCAMEZ

MARTA MARTINEZ MARTINEZ

ESTRELLA MARTINEZ GOMEZ

MARIA JESUS MARTINEZ MARTINEZ

MARIA MATA FERRON

MARIA DEL CARMEN MOLEON GONZALEZ

SANA AMANAT ALI

Investigación