Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme

Article Abstract:

Human uridinediphosphate-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase) has been cloned and characterized, and a mutation analysis has been conducted of three subjects with sialuria. Sialuria is an inborn error of metabolism associated with defects in regulation of UDP-GlcNAc 2-epimerase. The allosteric location of the enzyme has been identified in the area of codons 263-266. The mutant allele is heterozygous in all three patients, pointing to a dominant mode of inheritance for sialuria.

Sialic acids

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Multicentric origin of hemochromatosis gene (HFE) mutations

Article Abstract:

Studies show that the hemochromatosis gene has been impacted by selection pressure. In research comparing data from the Middle East and Sri Lanka, three new haplotypes were discovered in the Sri Lanka independent from known forms in the Middle East, indicating that mutations arose separately from other origins. This implies that causation of hemochromatosis is multicentric.

Demographic aspects, Genetic disorders, Hemochromatosis

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Ggonadoblastoma, testicular and prostate cancers, and the TSPY gene

Article Abstract:

Research indicates that the TSPY gene of the Y chromosome is linked to predisposition of gonadoblastoma. The oncogenic function of the gene may be determined by its inappropriate or aberrant expression in germ cells that are in a hostile environment for spermatogenesis, or in somatic cells that are unable to enter meiotic differentiation.

Prostate cancer, Testicular cancer, Oncology, Y chromosome

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