Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

Coenzyme Q10 Deficiency Syndrome: Understanding the genotype-phenotype association and metabolic dysfunction through generation of induced pluripotent stem cells (iPSCs) from patient-specific uncorrected and genetically-corrected cells

Project Coordinator

Genemic Oncology Area, Fundacion Publica Andaluz Progreso y Salud Centre for Genomics and Oncology Research


Audrey Carriere-Pazat STROMAlab UMR5273 Centre Nationale de la Recherche Scientifique (CNRS-INSERM) Toulouse Toulouse, France
Jacob Hanna Department of Molecular Genetics Labolatory for Pluripotent Cell Studies The Weizmann Institute of Science Rehovot Rehovot, Israel

Coenzyme Q10 (CoQ10) is a vital molecule for cell homeostasis. Deficiency of CoQ10 syndrome originates from mutations in genes responsible for CoQsynthesis. CoQ10 deficiency leads to a disorder which manifests with encephalomyopathies, because the disruption of the energy metabolism affects tissues such as cerebellum and skeletal muscle. Many COQ genes have been implicated in the primary CoQ10 deficiency, making the molecular diagnosis and clinical heterogeneity a challenge. To date, there is not a clear association between the mutations and the patients clinical phenotype, and the only current treatment is CoQ10 supplementation which effectiveness remains poor. We propose to generate and differentiate induces pluripotent stem cells from CoQ-deficient patients, before and after correction of the genetic defect, to elucidate the pathogenesis and developmental mechanisms of primary CoQ10 deficiency. Our goals are:(i) study the lack of association between the mutations and the patients clinical phenotype by differentiating COQ-iPSC towards disease-affected tissues (purkinje neurons and skeletal muscle), and (ii) characterize the metabolic dysfunction of iPSC and the differentiated progeny to assess whether exogenous CoQ10 rescues metabolic homeostasis and influences differentiation of COQ-iPSC. We envision these studies will provide novel insights into the genotype-phenotype association and metabolic dysfunction in CoQdeficiency patients.

E-Rare 2012 - Created by Toussaint Biger