Absence of mtDNA mutations in leukocytes of CADASIL patients.

ABSTRACT:

Background

Ultrastructural and biochemical abnormalities of mitochondria have been reported in skeletal muscle biopsies of CADASIL patients with mutations in the NOTCH3 nuclear gene. Additionally, it was proposed that NOTCH3 gene mutations may predispose the mitochondrial DNA (mtDNA) to mutations.

Methods

We sequenced the entire mitochondrial genome in five Arab patients affected by CADASIL.

Results

The mean number of mtDNA sequence variants (synonymous and nonsynonymous) in CADASIL patients was not statistically significantly different from that in controls (p = 0.378). After excluding haplogroup specific single nucleotide polymorphisms (SNPs) and proved silent polymorphisms, no known or novel pathologic mtDNA mutation(s) could be detected in any patient. Additionall

SUBMITTER: Abu-Amero KK 

PROVIDER: S-EPMC2518270 | biostudies-literature | 2008 May

REPOSITORIES: biostudies-literature