Gene "mt-tRNAGlu"
Found 1 record
Gene information
Gene symbol:
mt-tRNAGlu
See related:
Ensembl: , Gene ID:
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
Disorder:
Vriant:
Reference:
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail:
  • Gene:
    Genomic location:
    dbSNP ID:
    Target disease:
    Diabetes Mellitus(DOID_9351)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Pedigree analysis 
    Effect:
    The tRNA(Glu) A14693G variant may have a potential modifier role in increasing the penetrance and expressivity of the deafness-associated A1555G mutation in this Chinese pedigree.
    Reference:
    Title:
    Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family.
    Species studied:
    Human
    Abstract:
    Mutations in mitochondrial 12S rRNA gene are one of the most important causes of aminoglycoside-induced and nonsyndromic hearing loss. Here we report the characterization of one Han Chinese pedigree with aminoglycoside-induced and nonsyndromic hearing loss. This Chinese family carrying the 12S rRNA A1555G mutation exhibited high penetrance and expressivity of hearing impairment. In particular, penetrances of hearing loss in this family pedigree were 43.8% and 25%, respectively, when aminoglycoside-induced hearing loss was included or excluded. Mutational analysis of entire mitochondrial genomes in this family showed the homoplasmic A1555G mutation and a set of variants belonging to haplogroup Y2. Of these, the A14693G variant occurred at the extremely conserved nucleotide (conventional position 54) of the TPsiC-loop of tRNA(Glu) and was absent in 156 Chinese controls. Nucleotides at position 54 of tRNAs are often modified, thereby contributing to the structural formation and stabilization of functional tRNAs. Thus, the structural alteration of tRNA by the A14693G variant may lead to a failure in tRNA metabolism and impair mitochondrial protein synthesis, thereby worsening mitochondrial dysfunctions altered by the A1555G mutation. Therefore, the tRNA(Glu) A14693G variant may have a potential modifier role in increasing the penetrance and expressivity of the deafness-associated A1555G mutation in this Chinese pedigree.