Mitochondrial diabetes and deafness: Possible dysfunction of strial marginal cells of the inner ear

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dc.catalogadordfo
dc.contributor.authorOlmos, Pablo R.
dc.contributor.authorBorzone, Gisella
dc.contributor.authorOlmos, Juan P.
dc.contributor.authorDiez, Alberto
dc.contributor.authorSantos Martín, José Luis
dc.contributor.authorSerrano, Valentina
dc.contributor.authorCataldo, Luis R.
dc.contributor.authorAnabalón, José L.
dc.contributor.authorCorrea, Claudio H.
dc.date.accessioned2024-01-22T16:22:21Z
dc.date.available2024-01-22T16:22:21Z
dc.date.issued2011
dc.description.abstractObjective: Some patients with the syndrome of mitochondrial diabetes and deafness (MIDD) have a m.3243A>G mutation of the MTTL1 gene encoding transfer ribonucleic acid for the amino acid leucine (tRNALeu(UUR)). One of our MIDD patients inspired us to propose an integrated view on how a single mutation of the mitochondrial deoxyribonucleic acid (DNA) affects both the glucose metabolism and the inner ear physiology. Design: (a) Study of mitochondrial DNA in a patient with MIDD. (b) Review of the literature on the impact of the m.3243A.G mutation on glucose metabolism and on the physiology of the hearing process. Settings: Outpatient diabetes and nutrition department and molecular nutrition laboratory. Methods: (a) Polymerase chain reaction followed by restriction fragment analysis identified the m.3243A>G mutation. (b) Review of the literature from 1994 to 2009. Results: (a) Molecular study: the m.3243A>G mutation was detected with an appreciable level of heteroplasmy. (b) Review of the literature: the strial marginal cells located near the organ of Corti fulfill two characteristics: they are rich in mitochondria, and their dysfunction may produce neurosensorial deafness by means of a reduction in the potassium ion concentration of the endolymph. Conclusions: The m.3243A>G mutation not only underlies a dysfunction of the insulin-producing beta cell of the pancreas but also results in a reduction in adenosine triphosphate production of the strial marginal cells of the inner ear, thus diminishing the energy (in the form of potassium ion gradient) needed for the outer hair cells of the organ of Corti to amplify the soundwaves, particularly at high frequencies. © 2011 The Canadian Society of Otolaryngology-Head & Neck Surgery.
dc.fuente.origenORCID-ene24
dc.identifier.doi10.2310/7070.2010.100078
dc.identifier.issn1916-216
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80894
dc.information.autorucEscuela de Medicina; Borzone, Gisella; S/I; 99892
dc.information.autorucEscuela de Medicina; Diez, Alberto; S/I; 156258
dc.information.autorucEscuela de Medicina; Santos Martín, José Luis; 0000-0003-2895-0369; 1005923
dc.information.autorucEscuela de Medicina; Serrano, Valentina; S/I; 11709
dc.issue.numero2
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.final103
dc.pagina.inicio90
dc.revistaJournal of Otolaryngology - Head and Neck Surgery
dc.rightsacceso restringido
dc.subjectDeoxyribonucleic acid (DNA)
dc.subjectMitochondrial
dc.subjectMitochondrial diabetes and deafness
dc.subjectMutation
dc.subjectStrial marginal cell
dc.subject.ddc600
dc.subject.deweyTecnologíaes_ES
dc.titleMitochondrial diabetes and deafness: Possible dysfunction of strial marginal cells of the inner ear
dc.typeartículo de revisión
dc.volumen40
sipa.codpersvinculados99892
sipa.codpersvinculados156258
sipa.codpersvinculados1005923
sipa.codpersvinculados11709
sipa.trazabilidadHistorial Académico;09-07-2021
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