Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.

ABSTRACT:

Background

Mitochondrial encephalomyopathies are a heterogeneous group of clinical disorders generally caused due to mutations in either mitochondrial DNA (mtDNA) or nuclear genes encoding oxidative phosphorylation (OXPHOS). We analyzed the mtDNA sequences from a group of 23 pediatric patients with clinical and morphological features of mitochondrial encephalopathies and tried to establish a relationship of identified variants with the disease.

Methodology/principle findings

Complete mitochondrial genomes were amplified by PCR and sequenced by automated DNA sequencing. Sequencing data was analyzed by SeqScape software and also confirmed by BLASTn program. Nucleotide sequences were compared with the revised Cambridge reference sequence (CRS) and sequences present in mitochond

SUBMITTER: Wani AA 

PROVIDER: S-EPMC1976591 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature