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AssigneeMcGill University
InventorsRoy A. Gravel, Rima Rozen, Daniel Leclerc, Aaron Wilson, David Rosenblatt
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The invention features a novel gene encoding methionine synthase reductase. The invention also features a method for detecting an increased likelihood of hyperhomocysteinemia and, in turn, an increased or decreased likelihood of neural tube defects, cardiovascular disease, Down's Syndrome or cancer. The invention also features therapeutic methods for treating and/or reducing the risk of cardiovascular disease, Down's Syndrome, cancer, or neural tube defects. Also provided are the sequences of the human methionine synthase reductase gene and protein and compounds and kits for performing the methods of the invention.
A method for detecting an increased risk of developing Down's Syndrome in a mammalian embryo or fetus, said method comprising detecting the presence of a polymorphic methionine synthase reductase (MTRR) in said embryo or fetus, or in a future female parent of said embryo or said fetus, wherein detection of a homozygous MTRR polymorphism in said future female parent, said embryo, or said fetus indicates an increased risk of developing Down's Syndrome in said embryo or said fetus, wherein said polymorphism comprises a G instead of an A at position 66 relative to the first nucleotide of the start codon of MTRR.
A method for detecting an increased risk of premature coronary artery disease in a mammal, said method comprising detecting the presence of a homozygous methionine synthase reductase (MTRR) polymorphism in said mammal, wherein said MTRR polymorphism comprises a G instead of an A at position 66 relative to the first nucleotide of the start codon of MTRR.
A method for detecting an increased risk of developing a neural tube defect in a mammalian embryo or fetus, said method comprising detecting the presence of a homozygous methionine synthase reductase (MTRR) polymorphism and low serum cobalamin level in a future female parent of said embryo or fetus, wherein said MTRR polymorphism comprises a G instead of an A at position 66 relative to the first nucleotide of the start codon of MTRR.
A method for detecting an increased risk of developing a neural tube defect in a mammalian embryo or fetus, said method comprising detecting the presence of a homozygous methionine synthase reductase (MTRR) polymorphism and a homozygous methylenetetrahydrofolate reductase (MTHFR) polymorphism in said embryo or fetus, or in a future female parent of said embryo or fetus, wherein said MTRR polymorphism comprises a G instead of an A at position 66 relative to the first nucleotide of the start codon of MTRR and said MTHFR polymorphism comprises a T instead of a C at position 677 relative to the first nucleotide of the start codon of MTHFR, wherein detection of said MTRR and MTHFR polymorphisms indicate an increased risk of developing said neural tube defect in said embryo or fetus.
Dependencies are inferred from the claim text.