Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac096
Abstract: Sensorineural hearing loss often results from damaged or deficient inner ear hair cells. Mitochondrial 12S rRNA 1555A > G mutation has been associated with hearing loss in many families. The m.1555A > G mutation is a primary factor underlying… read more here.
Keywords: like cells; hair cells; 1555a mutation; hearing loss ... See more keywords
Mitochondrial tRNAGln 4394C>T Mutation May Contribute to the Clinical Expression of 1555A>G-Induced Deafness
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DOI: 10.3390/genes13101794
Abstract: The mitochondrial 1555A>G mutation plays a critical role in aminoglycoside-induced and non-syndromic hearing loss (AINSHL). Previous studies have suggested that mitochondrial secondary variants may modulate the clinical expression of m.1555A>G-induced deafness, but the molecular mechanism… read more here.
Keywords: 4394c mutation; 1555a mutation; expression 1555a; mutation ... See more keywords