A second common mutation in the methylenetetrahydrofolate reducase gene: an additional risk factor for neural-tube defects?

Article Abstract:

A second common mutation in the methylenetetrahydrofolate reductase (MTHFR) gene has been identified as a possible risk factor for neural-tube defects. The novel mutation, 1298( A to C) mutation, with an allele frequency of .33, involves a change from glutamate into alanine, destroying an MboII recognition site. Combined heterozygosity of this mutation and the 677(C to T) mutation apparently accounts for some folate-related neural-tube defects.

Neural tube

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A mutation of beta-actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness and dystonia

Article Abstract:

A missense point mutation is identified in the gene coding for beta-actin that results in an arginine-to-tryptophan substitution at position 183. Cellular studies of lymphoblastoid cell line obtained from an affected patient demonstrated morphological abnormalities of the actin cytoskeleton and altered actin depolymerization dynamics in response to latrunculin, A, an actin monomer-sequestering drug.

United States, Tryptophan, Genetic code

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Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene

Article Abstract:

The human dihydropyrimidinase (DHP) gene and mutations associated with DHP deficiency have been studied through molecular analysis. One frameshift mutation and five missense mutations have been found. The mutations cause significant reductions in enzyme activity. One symptomatic and five asymptomatic cases were studied. The DHP deficiency does not always result in a clinical phenotype.

Metalloenzymes

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