Mitochondrial tRNA mutations in Chinese Children with Tic Disorders.

ABSTRACT:

Aims

To conduct the clinical, genetic and molecular characterization of 494 Han Chinese subjects with Tic disorders (TD).

Methods

In this study, we performed the mutational analysis of 22 mitochondrial tRNA genes in a large cohort of 494 Han Chinese subjects with TD via Sanger sequencing. These variants were then assessed for their pathogenic potential via phylogenetic, functional, and structural analyses.

Results

A total of 73 tRNA gene variants (49 known and 24 novel) on 22 tRNA genes were identified. Among these, 18 tRNA variants that were absent or present in <1% of 485 Chinese control patient samples were localized to highly conserved nucleotides, or changed the modified nucleotides, and had the potential structural to alter tRNA structure and function. These var

SUBMITTER: Jiang P 

PROVIDER: S-EPMC7755120 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature