Metallothioneins as dynamic markers for brain disease in lysosomal disorders.

ABSTRACT:

Objective

To facilitate development of novel disease-modifying therapies for lysosomal storage disorder (LSDs) characterized by nervous system involvement such as metachromatic leukodystrophy (MLD), molecular markers for monitoring disease progression and therapeutic response are needed. To this end, we sought to identify blood transcripts associated with the progression of MLD.

Methods

Genome-wide expression analysis was performed in primary T lymphocytes of 24 patients with MLD compared to 24 age- and sex-matched healthy controls. Genes associated with MLD were identified, confirmed on a quantitative polymerase chain reaction platform, and replicated in an independent patient cohort. mRNA and protein expression of the prioritized gene family of metallothioneins was evaluat

SUBMITTER: Cesani M 

PROVIDER: S-EPMC4237725 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature