Bio
Dr. Gilfix is currently an Associate Professor in the Department of Medicine at the McGill University Health Centre (Montreal, Canada) where he has been on staff since 1993. His professional training has taken place at several locations: the U. of Manitoba (BSc Honours, Microbiology), the U. of Western Ontario (PhD, Biochemistry), Harvard Medical School (MRC Post-Doctoral Fellowship), and McGill U. (MDCM and Specialty training in Medical Biochemistry).
Dr. Gilfix’s clinical activities are centred on selected inherited disorders (homocystinuria, congenital disorders of glycosylation, porphyria, alpha1-antitrypsin deficiency, lipid disorders).
His research focuses on cysteine and homocysteine metabolism and disorders of vitamin B12 metabolism.
He is McGill Program Director for Training in Medical Biochemistry and current Past President of the Canadian Association of Medical Biochemists.
"Aminoglycosides for the Treatment of Inborn Errors of Vitamin B12 Metabolism (cblG)"
Vitamin B12 (cobalamin) is essential for hematological and neurological function. Upon uptake into the cell, it is converted in a series of steps to its active forms, 5- methylcobalamin and adenosylcobalamin. At least 19 gene products are involved in its uptake and metabolism. A mutation in the gene for methionine synthase (MTR; cblG) results in relatively rare disorder of vitamin B12 metabolism. For cblG defects, treatment is limited to parental hydroxycobalamin; supplementation with betaine and folate may be required. Although biochemical parameters and some symptoms improve, neurological recovery is not necessarily complete. It is known that aminoglycoside antibiotics (e.g. geneticin) allow the cell to overcome certain mutation (stop codons) by allowing the insertion of a random amino acid, and thereby expressing a full-length protein. The talk will present our experience in culture cells on the ability of geneticin and other less toxic drugs (e.g. Exaluren) to restore cblG function and so demonstrate their utility in treating cblG disorders.
