Research Collaboration with Montreal Heart Institute Research Center
MLD is excited to announce that it has entered into a collaborative research project with Dr. Christine Des Rosiers and Dr. Matthieu Ruiz from the Montreal Heart Institute Research Center and the Department of Nutrition (Faculty of Medicine), Université de Montréal, to investigate the role of plasmalogens and potential therapeutic opportunities in Leigh syndrome French Canadian (LSFC) variant, a mitochondrial disease prevalent in the French-Canadian population of northeastern Quebec. The disease, known as one of the most severe forms of the Leigh Syndrome, is caused by mutations in a mitochondrial-targeted, leucine-rich pentatricopeptide repeat-containing (LRPPRC) protein. This leads to an impaired tissue-specific assembly of complexes of the electron transport chain, mainly complex IV (cytochrome oxidase) in the liver and the brain. LFSC patients exhibit many hallmarks of mitochondrial diseases, including neurological manifestations.
Drs. Des Rosiers and Ruiz, with other researchers of the LSFC Consortium (currently supported by the Fondation du Grand Défi Pierre Lavoie), have developed and characterized an H-Lrpprc-/- mouse model of LSFC containing a mutation in the Lrpprc gene, specifically in the liver, to better understand the disease pathogenesis. They have previously published that in addition to the known mitochondrial metabolism manifestations of the disease, peroxisomal function was also altered. Peroxisomes are another type of subcellular organelle involved in specific metabolic reactions within the body, including the synthesis of plasmalogen lipids.
“This collaboration represents an exciting opportunity to determine whether the plasmalogen replacement therapeutics being developing at MLD may be appropriate for the treatment of patients with this Leigh Syndrome” says Dr. Tara Smith, VP, Therapeutics.
“This academic-industry Canadian partnership is an excellent opportunity for our group of researchers to collaborate with experts in plasmalogen chemistry and thereby translate many years of basic research into a potentially novel approach for the treatment of this disease,” says Dr. Des Rosiers.
The first stage of the project is to further characterize the extent, if any, of plasmalogen deficiency within the circulation, peripheral tissues and brain of H-Lrpprc-/- mice. If a deficiency is confirmed, these mice will be treated with one or more of MLD’s patented plasmalogen precursors to determine whether plasmalogen augmentation results in any improvements in behavioral function.
Altogether, these studies will represent an expansion of MLD’s development programs, which may eventually lead to new avenues for the therapeutic potential of its products for the treatment of mitochondrial diseases / disorders.