Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; email:
Department of Otorhinolaryngology-Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, Maryland, USA; email:
Annu Rev Genomics Hum Genet. 2022 Aug 31;23:275-299. doi: 10.1146/annurev-genom-121321-094136. Epub 2022 Jun 6.
Current estimates suggest that nearly half a billion people worldwide are affected by hearing loss. Because of the major psychological, social, economic, and health ramifications, considerable efforts have been invested in identifying the genes and molecular pathways involved in hearing loss, whether genetic or environmental, to promote prevention, improve rehabilitation, and develop therapeutics. Genomic sequencing technologies have led to the discovery of genes associated with hearing loss. Studies of the transcriptome and epigenome of the inner ear have characterized key regulators and pathways involved in the development of the inner ear and have paved the way for their use in regenerative medicine. In parallel, the immense preclinical success of using viral vectors for gene delivery in animal models of hearing loss has motivated the industry to work on translating such approaches into the clinic. Here, we review the recent advances in the genomics of auditory function and dysfunction, from patient diagnostics to epigenetics and gene therapy.
目前的估计表明,全世界有近 5 亿人受到听力损失的影响。由于听力损失涉及遗传或环境因素所带来的重大心理、社会、经济和健康影响,人们投入了相当大的努力来识别相关的基因和分子途径,以促进预防、改善康复和开发治疗方法。基因组测序技术已经发现了与听力损失相关的基因。对内耳转录组和表观基因组的研究已经描述了参与内耳发育的关键调节剂和途径,并为其在再生医学中的应用铺平了道路。与此同时,在听力损失动物模型中使用病毒载体进行基因传递的巨大临床前成功促使该行业致力于将这些方法转化为临床应用。在这里,我们回顾了从患者诊断到表观遗传学和基因治疗的听觉功能和障碍的基因组学的最新进展。