Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination.

ABSTRACT:

Objective

We investigated mitochondrial DNA (mtDNA) variants in children with a first episode of acquired demyelinating syndromes (PD-ADS) of the CNS and their relationship to disease phenotype, including subsequent diagnosis of multiple sclerosis (MS).

Methods

This exploratory analysis included the initial 213 children with PD-ADS in the prospective Canadian Pediatric Demyelinating Study and 166 matched healthy sibling controls from the Canadian Autism Genome Project. A total of 31 single nucleotide polymorphisms (SNPs) were analyzed, including haplogroup-defining SNPs and mtDNA variants previously reported to be associated with MS.

Results

Primary Leber hereditary optic neuropathy (LHON) mutations and other known pathogenic mtDNA mutations were absent in both patien

SUBMITTER: Venkateswaran S 

PROVIDER: S-EPMC3053335 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature