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Mitochondrial Dysfunction and Hearing Loss
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
In the cochlea, the ribosomes and the mitochondria seem to be the cause of HL with the exposure to aminoglycoside, because the natural target of these drugs is the evolutionarily bacterial ribosome. There is a homoplasmic mutation (patogenic variant) A1555G in the mitochondrial 12S ribosomal RNA gene (MT-RNR1), that can produce HL with or without exposure to aminoglycoside. In early stage of studies, the possibility of suffering HL was thought to be only through the exposure to the drug; but now we know that this is not true.15
Differential mitochondrial genome in patients with Rheumatoid Arthritis
Published in Autoimmunity, 2021
Kumar Sagar Jaiswal, Shweta Khanna, Arup Ghosh, Prasanta Padhan, Sunil Kumar Raghav, Bhawna Gupta
A total of 382 SNPs variants were observed in mtDNA samples isolated from our case control cohort of 23 RA patients and 17 HCs when analysed against mtDNA sequences from rCRS repository shown in Figure 1. Supplementary Table S2 shows the location of SNPs, reference and altered alleles, gene names, type of variants, variant impact, amino acid changes due to SNP, disease score, dbSNP ID, function of observed SNPs, annotated disease, and the frequency of SNPs in controls and patients with a statistical significance (Fisher’s exact test p value). Among the 382 SNPs identified, 9 variants were present in all 40 mtDNA samples (17 HC and 23 RA samples) at positions 73 A > G and 263 A > G in intergenic region; 750 A > G and 1438 A > G in RNR1 gene; 4769 A > G in ND2 gene; 7028 C > T in COX1; 8860 A > G in ATP6; 11,719 G > A in ND4 gene and 14,766 C > T in CYTB gene (Supplementary Table S2). This shows a difference in mtDNA sequence in Indian population in comparison to the Caucasian mtDNA sequence deposited in the rCRS database.
Identification of causative variants in patients with non-syndromic hearing loss in the Minnan region, China by targeted next-generation sequencing
Published in Acta Oto-Laryngologica, 2019
Xiaohui Wu, Xingqiang Gao, Peng Han, Yulin Zhou
Probes were designed to target the entire coding region of gene GJB2, SLC26A4, and MT-RNR1, including 10 bp of intronic sequence flanking each exon in the design. Genomic DNA was extracted from peripheral blood using Gentra Puregene DNA isolation kit (QIAGEN, Hilden, Germany) and checked for quality using Qubit Quant-iT dsDNA BR Assay Kit (Thermo Fisher, Waltham, MA, USA). Genomic DNA (3 μg) of each sample was fragmented into 200 to 250 bp and subjected to SureSelect Target Enrichment System (Agilent Technologies, Santa Clara, CA, USA). Captured DNA samples were analyzed in pools of 10 to 33 samples sequenced simultaneously on Illumina HiSeq2500 System (Illumina, San Diego, CA, USA) using 100 bp paired-end reads.