Brief Biography

Since 1985, Dr. Brian Robinson has been a professor of both Paediatrics and Biochemistry and has contributed to the teaching of undergraduate courses for biochemistry specialists, medical students and graduate students.

Robinson has had continuous grant support from the Canadian Institutes of Health Research (CIHR) since 1974. In 2007 his Tier 1 Canada Research Chair in Vascular and Metabolic Biology was renewed.

Robinson trained with two eminent mitochondrial researchers, Dr. Brian Chappell and Dr. Ron Williams,  before coming to SickKids. In a series of papers starting in 1977, he defined a number of unique enzyme defects in lactic acidemia patients and went on to be instrumental in isolating cDNA clones for enzymes involved in lactic acidemia.

Robinson has received international recognition for developing new techniques for the use of cultured skin fibroblasts as vehicles for the diagnosis of mitochondrial diseases and his laboratory receives samples that come from around the world. His algorithms for the diagnosis of inherited lactic acidemia published in The Molecular and Biochemical Bases of Metabolic Disease are widely used in the genetic/metabolic community.

Research Interests

• Mitochondrial metabolic diseases
• Mitochondrial morphology
• The role of pentatricopeptide repeat (PPR) proteins in mitochondrial biogenesis

Research Activities

• Investigation of inborn errors of pyruvate metabolism related to assembly and metabolic control of the pyruvate dehydrogenase complex.
• Investigation of the role of iron-sulphur cluster assembly and its effect on maturation of respiratory chain complexes.
• Investigation of the role of the PPR proteins in mitochondrial RNA transcript processing and translation.
• Investigation of the relationship between mitochondrial ultrastructure and morphology and the causative genetic defects in mitochondrial myopathy

Future Research Interests

• Genetic variation in ability to detoxify oxygen-free radicals (superoxide dismutase).
• Mitochondrial proliferation mechanisms.
• Therapy for mitochondrial diseases by gene manipulation.

Publications

Maj, M., Sriskandarajah, N., Hung, V., Browne, I., Shah, B., Weadge, A., Jamieson, N.L., Tropak, M., Cameron, J.M., Addis, J.B. and ROBINSON, B.H.: Identification of Drug Candidates which Increase Cytochrome c Oxidase Activity in Deficient Patient Fibroblasts.  Mitochondrion 11(2):264-272, 2011.

Cameron, J.M., Levandovskiy, V., MacKay, N., Ackerley, C., Chitayat, D., Raiman, J., Halliday, W.H., Schulze, A. and ROBINSON, B.H.: Complex V TMEM70 Deficiency Results in Mitochondrial Nucleoid Disorganization.  Mitochondrion  11:191-199, 2011.

Maj, M., Tkachyova, I., Patel, P., Addis, J.B., MacKay, N., Levandovskiy, V., Lee, J., Lang, A.E., Cameron, J.M. and ROBINSON, B.H.: Oxidative Stress Alters the Regulatory Control of p66Shc and Akt in PINK1 Deficient Cells.  Biochem. Biophys. Res. Commun. 399(3):331-335, 2010.

Cameron, J.M., Levandovskiy, V., MacKay, N., Utgikar, R., Ackerley, C., Chiasson, D., Halliday, W., Raiman, J. and ROBINSON, B.H.: Identification of a Novel Mutation in GYS1 (Muscle-Specific Glycogen Synthase) Resulting in Sudden Cardiac Death, That is Diagnosable from Skin Fibroblasts.  Mol. Genet. Metab.  98(4):378-382, 2009.

Riazi, R., Khairallah, M., Cameron, J.M., Pencharz, P.B., des Rosiers, C. and ROBINSON, B.H.: Probing Pyruvate Metabolism in Normal and Mutant Fibroblast Cell Lines Using 13C-Labelled Mass Isotopomer Analysis and Mass Spectrometry.  Mol. Genet. Metab.  98(4):349-355, 2009.

Cameron, J.M., Maj, M., Levandovskiy, V., Barnett, C.P., Blaser, S., MacKay, N., Raiman, J., Feigenbaum, A., Schulze, A., and ROBINSON, B.H.:  Pyruvate Dehydrogenase Phosphatase 1 (PDP1) Null Mutation Produces a Lethal Infantile Phenotype.  Hum. Genet.  125(3):319-326, 2009.

Xu F, Ackerley C, Maj M, Addis JBL, Levandovskiy V, Lee J, MacKay N, Cameron JM, Robinson BH.: Disruption of a mitochondrial RNA binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria. Biochem. J. 416:15-26, 2008.

Cameron, J.M., Maj, M.C., Levandovskiy, V., MacKay, N., Shelton, G.D. and ROBINSON, B.H.:  Identification of a Canine Model of Pyruvate Dehydrogenase Phosphatase 1 Deficiency.  Mol. Genet. Metab. 90(1):15-23, 2007.

Castagna, A.E., Addis, J., McInnes, R.R., Clarke, J.T.R., Ashby, P., Blaser, S. and ROBINSON, B.H.:  Late Onset Leigh Syndrome and Cerebellar Ataxia Due to a T to C Mutation at bp 9,185 of Mitochondrial DNA.  Am. J. Med. Genet. A. 143(8):808-816, 2007.

Cameron JM, Maj MC, Robinson BH.: Deficiency disorders of components of the PDH complex: E2, E3 and E3BP deficiencies. In: Alpha Lipoic Acid: Energy Production, Antioxidant Activity and Health Effects. Eds. M.S. Patel, L. Packer. CRC Press, 375-405, 2007.

Cameron JM, Maj MC, Levandovskiy V, MacKay N, Shelton GD, Robinson B.H.: Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol. Genet. Metab. 90(1):15-23, 2007.

MacKay N, Robinson BH.: Measurement of the ratio of lactate to pyruvate in skin fibroblast cultures. In: Methods in Cell Biology, Mitochondria. Eds L.A. Pon, E.A. Schon. Academic Press, New York. 80:173-178, 2007.

Castagna AE, Addis J, McInnes RR, Clarke JTR, Ashby P, Blaser S, Robinson BH.: Late onset leigh syndrome and cerebellar ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. Am. J. Med. Genet. A. 143(8):808-816, 2007.

ROBINSON, B.H.:  Lactic Acidemia and Mitochondrial Disaese. (Invited Review) Mol. Genet. Metab. 89(1-2):3-13, 2006.

Maj MC, Cameron JM, Robinson BH.: Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition? (Review) Molec. Cellular Endocr. 249:1-9, 2006.

Cameron JM, Levandovskiy V, MacKay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH.: Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. Am. J. Med. Genet. Part A 140(14):1542-1552, 2006.