Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Methionine synthase reductase

The MTRR gene encodes an enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive homocystinuria-megaloblastic anemia cblE.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Homocystinuria-megaloblastic anemia cblE
MTRR

References:

1.

Doolin MT et. al. (2002) Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.

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2.

Bosco P et. al. (2003) Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome.

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3.

Yamada K et. al. (2006) Human methionine synthase reductase is a molecular chaperone for human methionine synthase.

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4.

Tauro GP et. al. (1976) Dihydrofolate reductase deficiency causing megaloblastic anemia in two families.

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5.

Rosenblatt DS et. al. (1985) Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease).

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6.

Schuh S et. al. (1984) Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.

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7.

Leclerc D et. al. (1998) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

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8.

Wilson A et. al. (1999) A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.

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9.

Wilson A et. al. (1999) Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.

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10.

James SJ et. al. (1999) Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome.

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11.

Hobbs CA et. al. (2000) Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome.

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12.

Zavadakova P et. al. (2002) CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.

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13.

Zavadáková P et. al. (2005) cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

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14.

O'Leary VB et. al. (2005) Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.

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Update: Sept. 26, 2018