Elio Marciano
e-mail: Elio.marciano AT unina.it
website: www.unina.it
affiliation: Università di Napoli Federico II
research area(s): Neuroscience
Course:
Neurosciences
University/Istitution: Università di Napoli Federico II
University/Istitution: Università di Napoli Federico II
This research program regards the study of a very diffuse pathology: the deafness. Sensorineural hearing impairment can be considered the more diffuse form of children"s hearing loss (1/1000 born) and about 60% of sensorineural hearing impairment can be ascribed to genetic causes.
Functioning of hearing is controlled by hundreds of genes and the genetic deafness can be ascribed to a large variety of mutations in different genes. Many cases of recessive neurosensorial hearing loss are caused by mutation in GJB2 gene, that codify for protein connexin 26 (cx26). Moreover, have been identified deletions and mutations in another gene, the gene GJB6 that codify for the connexin 30 (cx30) and in mitochondrial genes.
Our research project consists essentially in the molecular screening, for subjects affected by sensorineural hearing impairment, in the GJB2, GJB6 and mitochondrial genes. Because our Unit is Regional Reference Center for Neonatal Screening, many patients are diagnosed at few months of life. They, moreover, are analyzed during the time both for the hearing loss evolution that for the riabilitation efficiency. All subjects that result negative for the above mutational screening can be screened for other genes involved in hearing loss. If they are affected by a familiar forms of hearing loss and their family result statistically significant, they are selected for linkage analysis to identify the gene involved in deafness.
Functioning of hearing is controlled by hundreds of genes and the genetic deafness can be ascribed to a large variety of mutations in different genes. Many cases of recessive neurosensorial hearing loss are caused by mutation in GJB2 gene, that codify for protein connexin 26 (cx26). Moreover, have been identified deletions and mutations in another gene, the gene GJB6 that codify for the connexin 30 (cx30) and in mitochondrial genes.
Our research project consists essentially in the molecular screening, for subjects affected by sensorineural hearing impairment, in the GJB2, GJB6 and mitochondrial genes. Because our Unit is Regional Reference Center for Neonatal Screening, many patients are diagnosed at few months of life. They, moreover, are analyzed during the time both for the hearing loss evolution that for the riabilitation efficiency. All subjects that result negative for the above mutational screening can be screened for other genes involved in hearing loss. If they are affected by a familiar forms of hearing loss and their family result statistically significant, they are selected for linkage analysis to identify the gene involved in deafness.
Vitale C, Marcelli V, Furia T, Santangelo G, Cozzolino A, Longo K, Allocca R, Amboni M, Marciano E, Barone P. (2011) Vestibular impairment and adaptive postural imbalance in parkinsonian patients with lateral trunk flexion. Mov Disord. 2011 Apr 4.
Iossa S, Chinetti V, Corvino V, Marciano E, Franzè A. (2011) R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG. Am J Med Genet A. 152A:2658-60
CHINETTI V, IOSSA S, AULETTA G, LARIA C, DE LUCA M, DI LEVA F, RICCARDI P, GIANNINI P, GASPARINI P, CICCODICOLA A, MARCIANO E, FRANZ" A (2010). Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. INTERNATIONAL JOURNAL OF AUDIOLOGY. pp. 6:326-331
MARCELLI V, FURIA T, MARCIANO E (2010). Vestibular Pathways Involvement in Children With Migraine: A Neuro-Otological Study. HEADACHE. pp. 6:71-76
BEDIN E, FRANZ" A, ZADRO C, PERSICO MG, CIULLO M, HLADNIK U, DOLCETTA D, GRASSO DL, RICCARDI P, NUTILE T, ANDRIGHETTO G, D'ADAMO P, GASPARINI P, MARCIANO E (2009). Age-related hearing loss in four Italian genetic isolates: An epidemiological study . INTERNATIONAL JOURNAL OF AUDIOLOGY. pp. 8:465-472
IOSSA S, CHINETTI V, AULETTA G, LARIA C, DE LUCA M, RIENZO M, GIANNINI P, DELFINO M, CICCODICOLA A, MARCIANO E, FRANZ" A (2009). New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. pp. 4:685-688
MARCELLI V, ESPOSITO F, ARAGRI A, FURIA T, RICCARDI P, TOSETTI M, BIAGI L, MARCIANO E, DI SALLE F (2009). Spatio-temporal pattern of vestibular information processing after brief caloric stimulation. EUROPEAN JOURNAL OF RADIOLOGY. pp. 5:312-316
F. ESPOSITO, A. ARAGRI, I. PESARESI, S. CIRILLO, G. TEDESCHI,E. MARCIANO, R. GOEBEL, F. DI SALLE (2008). Independent component model of the default-mode brain function: combining individual-level and population-level analyses in resting-state fMRI . MAGNETIC RESONANCE IMAGING. pp. 8:905-913
IOSSA S. , CHINETTI V. , AULETTA G. , LARIA C. , DE LUCA M. , RIENZO M. , GIANNINI P. , DELFINO M. , CICCODICOLA A. , MARCIANO E. , FRANZ" A. (2008). New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. pp.:1-4 "
MARCELLI V, PIAZZA F, PISANI F, MARCIANO E (2006). Neuro-otological features of benign paroxysmal vertigo and benign paroxysmal positioning vertigo in children: a follow-up study. BRAIN & DEVELOPMENT. pp. 5:80-84
DI LEVA F, D'ADAMO P, CUBELLIS MV, D'EUSTACCHIO A, ERRICHIELLO M, SAULINO C, AULETTA G, GIANNINI P, DONAUDY F, CICCODICOLA A, GASPARINI P, FRANZ" A, MARCIANO E (2006). Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). AUDIOLOGY & NEURO-OTOLOGY. pp. 8:157-164
Iossa S, Chinetti V, Corvino V, Marciano E, Franzè A. (2011) R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG. Am J Med Genet A. 152A:2658-60
CHINETTI V, IOSSA S, AULETTA G, LARIA C, DE LUCA M, DI LEVA F, RICCARDI P, GIANNINI P, GASPARINI P, CICCODICOLA A, MARCIANO E, FRANZ" A (2010). Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. INTERNATIONAL JOURNAL OF AUDIOLOGY. pp. 6:326-331
MARCELLI V, FURIA T, MARCIANO E (2010). Vestibular Pathways Involvement in Children With Migraine: A Neuro-Otological Study. HEADACHE. pp. 6:71-76
BEDIN E, FRANZ" A, ZADRO C, PERSICO MG, CIULLO M, HLADNIK U, DOLCETTA D, GRASSO DL, RICCARDI P, NUTILE T, ANDRIGHETTO G, D'ADAMO P, GASPARINI P, MARCIANO E (2009). Age-related hearing loss in four Italian genetic isolates: An epidemiological study . INTERNATIONAL JOURNAL OF AUDIOLOGY. pp. 8:465-472
IOSSA S, CHINETTI V, AULETTA G, LARIA C, DE LUCA M, RIENZO M, GIANNINI P, DELFINO M, CICCODICOLA A, MARCIANO E, FRANZ" A (2009). New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. pp. 4:685-688
MARCELLI V, ESPOSITO F, ARAGRI A, FURIA T, RICCARDI P, TOSETTI M, BIAGI L, MARCIANO E, DI SALLE F (2009). Spatio-temporal pattern of vestibular information processing after brief caloric stimulation. EUROPEAN JOURNAL OF RADIOLOGY. pp. 5:312-316
F. ESPOSITO, A. ARAGRI, I. PESARESI, S. CIRILLO, G. TEDESCHI,E. MARCIANO, R. GOEBEL, F. DI SALLE (2008). Independent component model of the default-mode brain function: combining individual-level and population-level analyses in resting-state fMRI . MAGNETIC RESONANCE IMAGING. pp. 8:905-913
IOSSA S. , CHINETTI V. , AULETTA G. , LARIA C. , DE LUCA M. , RIENZO M. , GIANNINI P. , DELFINO M. , CICCODICOLA A. , MARCIANO E. , FRANZ" A. (2008). New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. pp.:1-4 "
MARCELLI V, PIAZZA F, PISANI F, MARCIANO E (2006). Neuro-otological features of benign paroxysmal vertigo and benign paroxysmal positioning vertigo in children: a follow-up study. BRAIN & DEVELOPMENT. pp. 5:80-84
DI LEVA F, D'ADAMO P, CUBELLIS MV, D'EUSTACCHIO A, ERRICHIELLO M, SAULINO C, AULETTA G, GIANNINI P, DONAUDY F, CICCODICOLA A, GASPARINI P, FRANZ" A, MARCIANO E (2006). Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). AUDIOLOGY & NEURO-OTOLOGY. pp. 8:157-164
Project Title:
Etiology of sensorineural hearing loss
This research program regards the study of a very diffuse pathology: the deafness. Sensorineural hearing impairment can be considered the more diffuse form of children’s hearing loss (1/1000 born) and about 60% of sensorineural hearing impairment can be ascribed to genetic causes.
Functioning of hearing is controlled by hundreds of genes and the genetic deafness can be ascribed to a large variety of mutations in different genes. Many cases of recessive neurosensorial hearing loss are caused by mutation in GJB2 gene, that codify for protein connexin 26 (cx26). Moreover, have been identified deletions and mutations in another gene, the gene GJB6 that codify for the connexin 30 (cx30) and in mitochondrial genes.
Our research project consists essentially in the molecular screening, for subjects affected by sensorineural hearing impairment, in the GJB2, GJB6 and mitochondrial genes. Because our Unit is Regional Reference Center for Neonatal Screening, many patients are diagnosed at few months of life. They, moreover, are analyzed during the time both for the hearing loss evolution that for the riabilitation efficiency. All subjects that result negative for the above mutational screening can be screened for other genes involved in hearing loss. If they are affected by a familiar forms of hearing loss and their family result statistically significant, they are selected for linkage analysis to identify the gene involved in deafness.
Functioning of hearing is controlled by hundreds of genes and the genetic deafness can be ascribed to a large variety of mutations in different genes. Many cases of recessive neurosensorial hearing loss are caused by mutation in GJB2 gene, that codify for protein connexin 26 (cx26). Moreover, have been identified deletions and mutations in another gene, the gene GJB6 that codify for the connexin 30 (cx30) and in mitochondrial genes.
Our research project consists essentially in the molecular screening, for subjects affected by sensorineural hearing impairment, in the GJB2, GJB6 and mitochondrial genes. Because our Unit is Regional Reference Center for Neonatal Screening, many patients are diagnosed at few months of life. They, moreover, are analyzed during the time both for the hearing loss evolution that for the riabilitation efficiency. All subjects that result negative for the above mutational screening can be screened for other genes involved in hearing loss. If they are affected by a familiar forms of hearing loss and their family result statistically significant, they are selected for linkage analysis to identify the gene involved in deafness.