Montreal Neurological Institute
Molecular Neurogenetics
McGill University
 

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Research

Research in our laboratory is focused on the molecular genetics of human mitochondrial respiratory chain defects.  Deficiencies in the activities of the enzyme complexes that make up the respiratory chain have emerged as important causes of a number of multi-systemic disorders, primarily affecting nerve and muscle.  The genetics of these disorders is particularly interesting because the polypeptide subunits of the respiratory chain are encoded in either the nuclear or mitochondrial genomes.
 
Ongoing research projects in the laboratory involve:  
• Investigation of the mechanisms of transmission and segregation of mtDNA sequence variants.
• Identification of defective nuclear genes using functional complementation in patient cell lines.
• Investigation of the mechanisms of assembly of cytochrome c oxidase, the terminal enzyme complex in the respiratory chain.
• Development of animal models for mtDNA diseases.