Loss of myelin-associated glycoprotein in kearns-sayre syndrome.

ABSTRACT:

Objective

To explore myelin components and mitochondrial changes within the central nervous system in patients with well-characterized mitochondrial disorders due to nuclear DNA or mitochondrial DNA (mtDNA) mutations.

Design

Immunohistochemical analysis, histochemical analysis, mtDNA sequencing, and real-time and long-range polymerase chain reaction were used to determine the pathogenicity of mtDNA deletions.

Setting

Department of Clinical Pathology, Columbia University Medical Center, and Newcastle Brain Tissue Resource.

Patients

Seventeen patients with mitochondrial disorders and 7 controls were studied from August 1, 2009, to August 1, 2010.

Main outcome measure

Regions of myelin-associated glycoprotein (MAG) loss.

Results

Myelin-associated gly

SUBMITTER: Lax NZ 

PROVIDER: S-EPMC3672633 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature