RESUMO
OBJECTIVE: To determine the frequency of the A1555G mutation in the mitochondrial genome among Spanish patients with aminoglycoside-induced ototoxicity. PATIENTS AND METHODS: We screened 25 unrelated cases, totalling 39 individuals with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity. This group was made up of 18 subjects from 4 unrelated families with a history of aminoglycoside ototoxicity in more than one relative, 8 subjects from 8 families that also had other relatives with hearing loss in absence of aminoglycoside exposure, and 13 sporadic cases. Among the 13 sporadic cases, there were 3 patients with vestibular involvement. Detection of the A1555G mutation was seen by mean of techniques for molecular diagnosis. RESULTS: The A1555G mutation was identified in all of the individuals from 4 families with aminoglycoside-induced cochlear damage and in 6 of 8 individuals with familial hearing loss. None of the sporadic cases carried the mutation. CONCLUSIONS: A high proportion of patients with cochlear damage due to aminoglycoside ototoxicity and having a familial history of hearing loss, related or not to aminoglycoside exposure, harbor the A1555G mutation.
Assuntos
Aminoglicosídeos/efeitos adversos , DNA Mitocondrial/genética , Perda Auditiva/induzido quimicamente , Perda Auditiva/genética , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , EspanhaRESUMO
Objetivos: determinar ta frecuencia de la mutación A1555G del genoma mitocondrial en pacientes españoles con ototoxicidad por aminoglucósidos. Pacientes y métodos: se estudiaron 25 casos independientes, con un total de 39 individuos con patología auditiva o vestibular causada por la ototoxicidad de los aminoglucósidos. De ellos, 18 pertenecían a 4 familias no relacionadas con historia de ototoxicidad por aminoglucósidos en más de un miembro de la familia, 8 sujetos pertenecían a 8 familias en las que había otros miembros con hipoacusia sin exposición a aminoglucósidos, y 13 eran casos esporádicos. Entre los 13 casos esporádicos, había 3 pacientes con afectación vestibular, sin hipoacusia. Los 36 individuos restantes presentaban daño coclear. Se realizó la detección de la mutación A1555G mediante técnicas de diagnóstico molecular. Resultados: se identificó la mutación A1555G en todos los individuos de las 4 familias con daño auditivo por aminoglucósidos y en 6 de los 8 individuos con historia familiar de hipoacusia. Ninguno de los casos esporádicos portaba la mutación. Conclusiones: una alta proporción de los pacientes con daño auditivo debido a la ototoxicidad de los aminoglucósidos y que tienen antecedentes familiares de hipoacusia (relacionada o no con ototoxicidad) portan la mutación A1555G (AU)
OBJECTIVE: To determine the frequency of the A1555G mutation in the mitochondrial genome among Spanish patients with aminoglycoside-induced ototoxicity. PATIENTS AND METHODS: We screened 25 unrelated cases, totalling 39 individuals with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity. This group was made up of 18 subjects from 4 unrelated families with a history of aminoglycoside ototoxicity in more than one relative, 8 subjects from 8 families that also had other relatives with hearing loss in absence of aminoglycoside exposure, and 13 sporadic cases. Among the 13 sporadic cases, there were 3 patients with vestibular involvement. Detection of the A1555G mutation was seen by mean of techniques for molecular diagnosis. RESULTS: The A1555G mutation was identified in all of the individuals from 4 families with aminoglycoside-induced cochlear damage and in 6 of 8 individuals with familial hearing loss. None of the sporadic cases carried the mutation. CONCLUSIONS: A high proportion of patients with cochlear damage due to aminoglycoside ototoxicity and having a familial history of hearing loss, related or not to aminoglycoside exposure, harbor the A1555G mutation (AU)
