Journal
GENE
Volume 520, Issue 2, Pages 79-89Publisher
ELSEVIER
DOI: 10.1016/j.gene.2013.03.041
Keywords
Hearing loss; Mitochondria; Nuclear gene; RNA modification; Hair cell; Apoptosis
Categories
Funding
- National Basic Research Program of China (973 Program) [2012CB967902]
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Hearing loss (HL) is a common disorder with mitochondrial dysfunction as one of the major causes leading to deafness. Mitochondrial dysfunction may be caused by either mutations in nuclear genes leading to defective nuclear-encoded proteins or mutations in mitochondrial genes leading to defective mitochondrial-encoded products. The specific nuclear genes involved in HL can be classified into two categories depending on whether mitochondrial gene mutations co-exist (modifier genes) or not (deafness-causing genes). TFB1M, MTO1, GTPBP3, and TRMU are modifier genes. A mutation in any of these modifier genes may lead to a deafness phenotype when accompanied by the mitochondrial gene mutation. OPA1, TIMM8A, SMAC/DIABLO, MPV17, PDSS1, BCS1L, SUCLA2, C10ORF2, COX10, PLOG1and RRM2B are deafness-causing genes. A mutation in any of these deafness-causing genes will directly induce variable phenotypic HL.(c) 2013 Elsevier B.V. All rights reserved.
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