Publications by authors named "Deirdre Lucas"
Article Synopsis
- The m.1555A>G mitochondrial DNA mutation can lead to hearing loss, particularly following exposure to certain antibiotics, but it can also cause inherited hearing loss without antibiotic exposure.
- There is ongoing debate about how this mutation affects hearing; recent studies have suggested an increase in a certain type of RNA methylation (m(6) 2A) associated with mitochondrial dysfunction as a potential mechanism.
- Research involving 14 patients revealed that while RNA transcripts from transformed cells had unmethylated regions, primary cells showed all detectable transcripts were methylated, suggesting that increased RNA methylation may not be a direct cause of hearing loss and highlighting the need for further studies with human samples.
Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutations, mutation analysis of this gene is widely available as a diagnostic test.
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