title: Nuclear factors: roles related to mitochondrial deafness.
abstract: 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.
authors.affiliation: Institute of Cell and Developmental Biology, Zhejiang University, Hangzhou 310058, China.
authors.forename: Ling-Feng
authors.initials: LF
authors.lastname: Luo
authors.forename: Cong-Cong
authors.initials: CC
authors.lastname: Hou
authors.forename: Wan-Xi
authors.initials: WX
authors.lastname: Yang
mesh_terms: D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics; D060045:Genes, Modifier / Q000502:physiology; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics; D008954:Models, Biological; D009687:Nuclear Proteins / Q000235:genetics / Q000502:physiology*; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors