skip to Main Content
Bio-active agents with copper (II) and their implication in orphan diseases.

Project description

Hypertrophic cardioencephalomyopathy (HCEM) is a rare mitochondrial disease caused by mutations in the gene encoding Sco2, a protein implicated in the trafficking of copper to cytochrome c oxidase (COX). This disease is occurring in the first month of life. Recently, we have synthesized solid copper(II) complexes ([Cu(His)2Cl2] and [Cu(Ser)2]) stable in different physiological media with good biocompatibility (viability of neurons and enterocytes over 90%) at concentrations of cupric complexes less than 100 μM. These results opened new perspectives for treatment of HCEM with oral formulations. The project examines a new approach in HCEM therapy considering that copper(II) complexes, properly formulated, can be absorbed at the intestinal level and can improve the COX activity. The understanding of the intestinal absorption system and the transmembrane transport of copper (II) complexes, following their oral administration, will allow the development of new pharmaceutical forms to improve the quality of life of patients.

Research team

Name: Mariela Gomez Perez, M.Sc
Supervisor: Mircea Alexandru Mateescu (UQAM)
Laureate: Doctoral fellowship 2018 and 2019

Back To Top