Our Researchers
David Rosenblatt, MD
Medical Genetics and Genomics AxisResearch Focus
Cultured fibroblasts from patients with elevated levels of homocysteine and/or methylmalonic acid are used to define novel steps in the metabolism of folate and vitamin B12. This laboratory is one of only two in the world for the investigation of these inborn errors. The MTHFR, MTR, MTRR, MMAA, MAAB and MMACHC genes have been identified as a result of collaboration with members of the CIHR Medical Genetics Group. This has allowed for detailed studies of genotype/phenotype correlations and for both carrier detection and prenatal diagnosis in families with mutations in these genes.
Keywords
vitamins, vitamin B12, folate, folic acid, homocysteine, methylmalonic acid, inborn errors of metabolism, genetic disease.
In the news....
Scientists at the MUHC and McGill University explain genetic disease first discovered in Quebec 24 years ago. Read the press release.
Selected Publications
Lerner-Ellis JP, Tirone JC, Pawelek PD, Dore C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Fobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nature Genetics 2006; 38: 93-100.
Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, and Rosenblatt DS: The spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Human Mutation 2006; 27: 31-43.
Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Dore C, Hudson T, Rosenblatt DS, Gravel RA. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on the analysis of prokaryotic gene rearrangements. Proceedings of the National Academy of Sciences of the United States of America 2002; 99: 15554-15559.
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