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HEREDITAS ›› 2012, Vol. 34 ›› Issue (3): 253-259.doi: 10.3724/SP.J.1005.2012.00253

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Epigenetics-A new perspective for the study of deafness

XU Fei1, WANG Hui-Jun2, MA Duan1,2,3   

  1. 1. Key Laboratory of Molecular Medicine, Ministry of Education, Shanghai Medical College, Fudan University, Shanghai 200032, China 2. Children’s Hospital, Fudan University, Shanghai 201102, China 3. Institutes of Biomedical Sciences, Resaerch Center for Birth Defects, Fudan University, Shanghai 200032, China
  • Received:2011-10-28 Revised:2011-11-08 Online:2012-03-20 Published:2012-03-25

Abstract: Hearing loss is the most common sensory disorder in humans. The newborn morbidity is 1/1000~3/1000. In most cases, the cause comes from abnormal development of inner-ear or degeneration of the cochlear hair cells. Genetic factors make a significant contribution to hearing impairment. Some genes and chromosome locus responsible for syndromic or non-syndromic hearing loss have been identified. However, etiology of deafness still remains obscure. In addition to some hot spot mutations (GJB2, SLC26A4, mitochondrial DNA C1494T, A1555G, etc.), epigenetics may also provide a significant contribution to this sensory disease. For example, miR-96 seed region mutations can result in progressive hearing loss in humans and mice, and aberrant CpG methylation has been linked to a few inherited syndromes that can induce hearing loss, etc.. This review aims to summarize the research progress of epigenetics in the fields of hearing and deafness.

Key words: epigenetics, microRNA, DNA methylation, histone modifications, hereditary deafness