Publications by authors named "Jaime Gallo Teran"
Objective: Mutations in the MTRNR1 gene of mitochondrial DNA are associated with non-syndromic hearing loss and increased susceptibility to aminoglycoside ototoxicity. The aim of our study was to determine the clinical characteristics of sensorineural hearing loss caused by the m.1555A>G mutation in MTRNR1.
View Article and Find Full Text PDFObjective: Genetic variants in the OTOF gene are responsible for non-syndromic hearing loss with an autosomal recessive inheritance pattern. The objective of our work was to evaluate the clinical characteristics of patients with biallelic pathogenic variants in OTOF and their evolution after treatment.
Methods: A cohort of 124 patients with prelingual hearing loss, studied from 1996 to 2023, was included in this study.
Introduction: The A1555G mitochondrial DNA (mtDNA) mutation is responsible for maternally inherited non-syndromic hearing loss that is increased by aminoglycoside exposure. The objective of this study was to ascertain the frequency of the A1555G mutation among patients without family history of hearing loss or known exposition to aminoglycosides.
Methods: We screened for the mtDNA A1555G mutation in Spanish patients with sporadic sensorineural hearing impairment without a known family history of hearing loss or aminoglycoside exposition seen at the ENT Department in Sierrallana Hospital (Torrelavega, Cantabria, Spain) over a four-year period.
The congenital absence of the major salivary glands is a very infrequent disorder, in which several glands are usually involved at the same time. Sometimes this disorder can be associated with other developmental anomalies. The unilateral aplasia of the submandibular gland is an extremely rare finding with only 14 cases reported in the literature.
View Article and Find Full Text PDFArticle Synopsis
- The A1555G mutation in human mitochondrial 12S rRNA is linked to deafness, but on its own, it does not cause the condition; nuclear-modifier genes are thought to influence the severity of the resulting symptoms.
- Researchers identified the TRMU gene as a nuclear-modifier that affects the expression of deafness when coupled with A1555G, showing a specific mutation (A10S) in TRMU plays a crucial role.
- The A10S mutation disrupts mitochondrial tRNA metabolism, which hinders protein synthesis in mitochondria and exacerbates deafness linked to the A1555G mutation, making its effects more severe.
Inherited hearing impairment affects one in 2,000 newborns. Nonsyndromic prelingual forms are inherited mainly as autosomal recessive traits, for which 16 genes are currently known. Mutations in the genes encoding connexins 26 and 30 account for up to 50% of these cases.
View Article and Find Full Text PDFBackground And Objective: The A1555G mutation in the mitochondrial genome causes sensorineural hearing loss and familial aminoglycoside ototoxicity.
Patients And Method: Screening for the A1555G mutation was performed on 72 patients with nonsyndromic sensorineural hearing loss.
Results: The A1555G mutation was identified in 15 patients (20.