New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.

ABSTRACT:

Objective

Mitochondrial respiratory chain disorder (MRCD) is an intractable disease of infants with variable clinical symptoms. Our goal was to identify the causative mutations in MRCD patients.

Methods

The subjects were 90 children diagnosed with MRCD by enzyme assay. We analyzed whole mitochondrial DNA (mtDNA) sequences. A cybrid study was performed in two patients. Whole exome sequencing was performed for one of these two patients whose mtDNA variant was confirmed as non-pathogenic.

Results

Whole mtDNA sequences identified 29 mtDNA variants in 29 patients (13 were previously reported, the other 13 variants and three deletions were novel). The remaining 61 patients had no pathogenic mutations in their mtDNA. Of the 13 patients harboring unreported mtDNA variants, we

SUBMITTER: Uehara N 

PROVIDER: S-EPMC4184687 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature