The Mitochondrial tRNA^Phe 625G>A Mutation in Three Han Chinese Families With Cholecystolithiasis.

ABSTRACT: In this study, we assessed three Chinese families with inherited cholecystolithiasis and conducted the clinical, genetic, and molecular characterization of these subjects. Eight of eighteen matrilineal relatives had a clinical phenotype in these three families. Sequence analysis of complete mitochondrial genomes in these probands identified the homoplasmic tRNA^Phe 625 G > A mutation and distinct sets of mtDNA polymorphisms belonging to haplogroups H2, F4b, and M10a. The 625G > A mutation disturbed the classic G-C base-pairings at a highly conserved position 49 in the T-stem of mitochondrial tRNAs. Molecular dynamics simulation showed that the structure of tRNA^phe with 625 G > A mutation was noticeably remodeled while compared with the isoform of the wild type. The occ

SUBMITTER: Hou L 

PROVIDER: S-EPMC9198646 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature