Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy.

ABSTRACT:

Background

Mutations in the TK2 gene are strongly associated with mitochondrial DNA depletion syndrome (MDS), a severe condition with high mortality and poor outcomes. Although many MDS cases are reported, those linked to TK2 mutations with lipid deposition are rare. Large deletions in the TK2 gene are even rarer.

Methods

We conducted whole-exome sequencing to find the gene linked to MDS, followed by genomic and structural analyses, histopathological, and functional analyses to assess the mutations' pathogenicity. Additionally, a HEK293T cell model with TK2 mutations was created to investigate the impact of large deletions on mitochondrial function.

Results

The patient was found to have a novel compound heterozygous mutation in the TK2 gene, consisting of a large dele

SUBMITTER: Li D 

PROVIDER: S-EPMC11912596 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature