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Background: Neonates with suspected sepsis are commonly treated with gentamicin, an aminoglycoside. These antibiotics are associated with high risk of ototoxicity, including profound bilateral deafness, in people with the m.1555A>G mitochondrial genetic variant.
View Article and Find Full Text PDFHigh prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect.
Sci Rep
July 2024
Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Kulakovskogo 46, 677013, Yakutsk, Russia.
Mitochondrial forms account approximately 1-2% of all nonsyndromic cases of hearing loss (HL). One of the most common causative variants of mtDNA is the m.1555A > G variant of the MT-RNR1 gene (OMIM 561000).
View Article and Find Full Text PDF[Pharmacogenetics of aminoglycoside ototoxicity: State of knowledge and practices - Recommendations of the Francophone Network of Pharmacogenetics (RNPGx)].
Therapie
November 2024
Service de pharmacologie, toxicologie et pharmacovigilance, centre de biologie et de recherche en santé (CBRS), CHU de Limoges, 87042 Limoges, France.
Article Synopsis
- Aminoglycosides can cause nephrotoxicity and ototoxicity, which can be monitored, but genetic predispositions related to the MT-RNR1 gene can heighten the risk of ototoxicity from the first dose.* -
- The Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Francophone Pharmacogenetics Network (RNPGx) provide recommendations on genetic testing for variants of the MT-RNR1 gene that affect ototoxicity, emphasizing the need for thorough screening if aminoglycoside treatment can be delayed.* -
- RNPGx recommends testing for specific MT-RNR1 variants before administering aminoglycosides, but acknowledges the challenge of conducting these tests quickly in urgent situations, and
Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.
BMC Med Genomics
June 2024
Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.
Article Synopsis
- Previous research suggested a link between inherited mitochondrial DNA mutations and sensorineural hearing loss (SNHL), but the connection, especially in Asian populations, needed further investigation.
- This study analyzed a large cohort of over 306,000 Taiwanese participants to determine if specific mitochondrial 12S rRNA (MT-RNR1) variants correlated with the risk of SNHL.
- Results indicated that individuals with MT-RNR1 mutations had a higher incidence of hearing loss compared to non-mutant individuals, and those with diabetes also faced an increased risk of developing SNHL.
A novel method for detecting nine hotspot mutations of deafness genes in one tube.
Sci Rep
January 2024
Comprehensive Laboratory, The Third Affiliated Hospital of Soochow University, Changzhou, 213003, People's Republic of China.
Deafness is a common sensory disorder. In China, approximately 70% of hereditary deafness originates from four common deafness-causing genes: GJB2, SLC26A4, GJB3, and MT-RNR1. A single-tube rapid detection method based on 2D-PCR technology was established for nine mutation sites in the aforementioned genes, and Sanger sequencing was used to verify its reliability and accuracy.
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