title: [Function study of non-syndromic deafness associated mitochondrial 12S rRNA A839G mutation].
abstract: OBJECTIVE
  To investigate the correlation between nonsyndromic deafness and mitochondrial 12s rRNA A839G mutation.
  
  
  METHODS
  According to the clinical manifestations of mitochondrial DNA sequencing and analysis to find and determine family containing mitochondrial 12s rRNA A839G mutation. Harvested its family members blood and transferred their lymphocytes into lymphoblastoid cell lines, followed by cells cultured, cell doubling experiment, susceptibility testing, cellular oxygen consumption rate experiment, ROS and mitochondrial membrane potential experimental tests were progressed to explore the correlation between the A839G mutation and nonsyndromic deafness.
  
  
  RESULTS
  The mitochondrial 12s rRNA A839G mutation pedigrees were determined through the full sequence detections of the Mitochondrial DNA, further phylogenetic analysis showed that 839 point conservative index (CI) up to 78.6%; in RPMI-galactose medium containing A839G gene mutant cell line, the doubling time was significantly longer than the control group, and the difference was significant (P = 0.033). The effect to cell lines containing the A839G mutation of aminoglycoside drugs was not obvious. When compared with the control group, cell lines containing the A839G mutation significantly reduced cellular oxygen consumption rate(P = 0.033); compared with the control group, the ROS levels of cell lines containing the A839G mutation appeared more substantial elevated with significan difference (P < 0.01). The mitochondrial membrane potential of cells of experimental group was significantly reduced than the control group.
  
  
  CONCLUSIONS
  The present study proved that the mitochondria 12s rRNA A839G mutations affect the function of the mitochondrial respiratory chain at the cell level, which might reduce the growth rate of the mutant cell lines, result in hearing.
authors.affiliation: Department of Otorhinolaryngology, Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical College, Wenzhou 325027, China.
authors.forename: Xiao
authors.initials: X
authors.lastname: Yu
authors.forename: Zheyun
authors.initials: Z
authors.lastname: He
authors.forename: Haijie
authors.initials: H
authors.lastname: Xiang
authors.forename: Jing
authors.initials: J
authors.lastname: Zheng
authors.forename: Benyu
authors.initials: B
authors.lastname: Nan
authors.forename: Binjiao
authors.initials: B
authors.lastname: Zheng
authors.forename: Jinjian
authors.initials: J
authors.lastname: Gao
authors.forename: Saiyu
authors.initials: S
authors.lastname: Huang
authors.forename: Minxin
authors.initials: M
authors.lastname: Guan
authors.affiliation: Email: wzbobei@126.com.
authors.forename: Bobei
authors.initials: B
authors.lastname: Chen
mesh_terms: D000617:Aminoglycosides; D002460:Cell Line; D004272:DNA, Mitochondrial; D003638:Deafness / Q000235:genetics*; D005690:Galactose; D006320:Hearing Tests; D008928:Mitochondria; D009154:Mutation; D010375:Pedigree; D010802:Phylogeny; D012335:RNA, Ribosomal / Q000235:genetics*
chemical_list: D000617:Aminoglycosides; D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D005690:Galactose