Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies.

ABSTRACT:

Objectives

Coenzyme Q10 (CoQ10) deficiency syndrome is a rare condition that causes mitochondrial dysfunction and includes a variety of clinical presentations as encephalomyopathy, ataxia and renal failure. First, we sought to set up what all have in common, and then investigate why CoQ10 supplementation reverses the bioenergetics alterations in cultured cells but not all the cellular phenotypes. DESIGN MODELLING STUDY: This work models the transcriptome of human CoQ10 deficiency syndrome in primary fibroblast from patients and study the genetic response to CoQ10 treatment in these cells.

Setting

Four hospitals and medical centres from Spain, Italy and the USA, and two research laboratories from Spain and the USA.

Participants

Primary cells were collected from patient

SUBMITTER: Fernandez-Ayala DJ 

PROVIDER: S-EPMC3612821 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature