Biomedical genetics of the inherited metabolic diseases: the GM2-gangliosidoses.
Many of the known gene defects result in inborn errors of metabolism that produce irreversible damage to the central nervous system. A variety of new clinical, morphologic, biochemical, and genetic techniques are being used to characterize these disorders more precisely. At the Shriver Center, the different genotypes of GM2-gangliosidosis are distinguished according to the ability of cells in culture to metabolize radioactively-labeled GM2-ganglioside. Large-scale screening for carriers of the trait for Tay-Sachs disease, the most common of the GM2-gangliosidoses, has dramatically reduced the incidence of this disease. Current efforts to isolate the genes for the alpha and beta chains of hexosaminidase A will lay the groundwork for better understanding of the molecular defects in these diseases and offers hope for a possible treatment.
D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002675:Child, Preschool; D002901:Chromosomes, Human, 13-15; D002905:Chromosomes, Human, 4-5; D005347:Fibroblasts / Q000378:metabolism; D005732:Gangliosides / Q000378:metabolism; D005733:Gangliosidoses / Q000235:genetics*; D005787:Gene Frequency; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D006868:Hydrolysis; D007223:Infant; D013661:Tay-Sachs Disease / Q000235:genetics / Q000517:prevention & control
D005732:Gangliosides