کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2817171 | 1569848 | 2013 | 11 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Nuclear factors: Roles related to mitochondrial deafness Nuclear factors: Roles related to mitochondrial deafness](/preview/png/2817171.png)
• Nuclear factors participating in mitochondrial hearing loss are summarized.
• Four modifier genes affect deafness phenotype manifestation with mtDNA.
• Fourteen deafness-causing genes are reviewed.
• Patterns show the roles, functions and possible connections among these factors.
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.
Journal: Gene - Volume 520, Issue 2, 15 May 2013, Pages 79–89