flavin-adenine-dinucleotide and Homocystinuria

flavin-adenine-dinucleotide has been researched along with Homocystinuria* in 2 studies

Other Studies

2 other study(ies) available for flavin-adenine-dinucleotide and Homocystinuria

Article	Year
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation. Human mutation, 2003, Volume: 21, Issue:5 Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5-methyltetrahydrofolate, a major methyl donor for homocysteine remethylation to methionine. Severe MTHFR deficiency results in marked hyperhomocysteinemia and homocystinuria. Patients display developmental delay and a variety of neurological and vascular symptoms. Cloning of the human cDNA and gene has enabled the identification of 29 rare mutations in homocystinuric patients and two common variants [677C>T (A222V) and 1298A>C (E429A)] with mild enzymatic deficiency. Homozygosity for 677C>T or combined heterozygosity for both polymorphisms is associated with mild hyperhomocysteinemia. In this communication, we describe four novel mutations in patients with homocystinuria: two missense mutations (471C>G, I153M; 1025T>C, M338T), a nonsense mutation (1274G>A, W421X), and a 2-bp deletion (1553delAG). We expressed the 1025T>C mutation as well as two previously reported amino acid substitutions [983A>G (N324S) and 1027T>G (W339G)] and observed decreased enzyme activity at 10%, 36%, and 21% of control levels, respectively, with little or no effect on affinity for 5-methyltetrahydrofolate. One of these mutations, 983A>G (N324S), showed flavin adenine dinucleotide (FAD) responsiveness in vitro. Expression of these mutations in cis with the 677C>T polymorphism, as observed in the patients, resulted in an additional 50% decrease in enzyme activity. This report brings the total to 33 severe mutations identified in patients with severe MTHFR deficiency. Topics: Age of Onset; DNA; DNA Mutational Analysis; Enzyme Stability; Family Health; Female; Flavin-Adenine Dinucleotide; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Oxidoreductases Acting on CH-NH Group Donors; Pedigree	2003
Detection of homozygotes and heterozygotes with methylenetetrahydrofolate reductase deficiency. The Journal of laboratory and clinical medicine, 1977, Volume: 90, Issue:2 Specific enzyme assay is required for the diagnosis of homocystinuria due to methylenetetrahydrofolate reductase deficiency. A rapid and accurate method has been developed using "pure" peripheral lymphocyte preparations. Triplicate determinations showed highly reproducible results. With the use of the mean of triplicate determinations in the presence of flavinadenine dinucleotide, there was complete segregation among the homozygotes, heterozygotes, and normal subjects. This method provides a rapid diagnosis in affected subjects and a simple means for the determination of heterozygotes for genetic counseling. Topics: Alcohol Oxidoreductases; Female; Flavin-Adenine Dinucleotide; Heterozygote; Homocystinuria; Homozygote; Humans; Lymphocytes; Male	1977

Article

Year

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.

Human mutation, 2003, Volume: 21, Issue:5

Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5-methyltetrahydrofolate, a major methyl donor for homocysteine remethylation to methionine. Severe MTHFR deficiency results in marked hyperhomocysteinemia and homocystinuria. Patients display developmental delay and a variety of neurological and vascular symptoms. Cloning of the human cDNA and gene has enabled the identification of 29 rare mutations in homocystinuric patients and two common variants [677C>T (A222V) and 1298A>C (E429A)] with mild enzymatic deficiency. Homozygosity for 677C>T or combined heterozygosity for both polymorphisms is associated with mild hyperhomocysteinemia. In this communication, we describe four novel mutations in patients with homocystinuria: two missense mutations (471C>G, I153M; 1025T>C, M338T), a nonsense mutation (1274G>A, W421X), and a 2-bp deletion (1553delAG). We expressed the 1025T>C mutation as well as two previously reported amino acid substitutions [983A>G (N324S) and 1027T>G (W339G)] and observed decreased enzyme activity at 10%, 36%, and 21% of control levels, respectively, with little or no effect on affinity for 5-methyltetrahydrofolate. One of these mutations, 983A>G (N324S), showed flavin adenine dinucleotide (FAD) responsiveness in vitro. Expression of these mutations in cis with the 677C>T polymorphism, as observed in the patients, resulted in an additional 50% decrease in enzyme activity. This report brings the total to 33 severe mutations identified in patients with severe MTHFR deficiency.

Topics: Age of Onset; DNA; DNA Mutational Analysis; Enzyme Stability; Family Health; Female; Flavin-Adenine Dinucleotide; Homocystinuria; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Oxidoreductases Acting on CH-NH Group Donors; Pedigree

2003

Detection of homozygotes and heterozygotes with methylenetetrahydrofolate reductase deficiency.

The Journal of laboratory and clinical medicine, 1977, Volume: 90, Issue:2

Specific enzyme assay is required for the diagnosis of homocystinuria due to methylenetetrahydrofolate reductase deficiency. A rapid and accurate method has been developed using "pure" peripheral lymphocyte preparations. Triplicate determinations showed highly reproducible results. With the use of the mean of triplicate determinations in the presence of flavinadenine dinucleotide, there was complete segregation among the homozygotes, heterozygotes, and normal subjects. This method provides a rapid diagnosis in affected subjects and a simple means for the determination of heterozygotes for genetic counseling.

Topics: Alcohol Oxidoreductases; Female; Flavin-Adenine Dinucleotide; Heterozygote; Homocystinuria; Homozygote; Humans; Lymphocytes; Male

1977