Biomaterial Database

Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis. 1976

M C Rattazzi, and J A Brown, and R G Davidson, and T B Shows

Complementation of beta hexosaminidase A (hex A) deficiency was obtained by Sendai virus-mediated somatic cell hybridization of cultured skin fibroblasts from two unrelated patients with Tay-Sachs disease (TSD) and one patient with Sandhoff-Jatzkewitz disease (SJD). The newly formed hex A was identified by its electrophoretic mobility in three different systems, heat lability, and reactivity with an antiserum against the unique antigenic determinant, alpha of hex A. The percentage of heterokaryons obtained by virus treatment of TSD and SJD fibroblast mixtures showed good correlation with the observed percentage of hex A activity. It is concluded that, in these two forms of GM2 gangliosidosis, beta hexosaminidase deficiency results from two different mutations. All of the current models of beta hexosaminidase structure are compatible with the observed complementation. No complementation was detected in 13 Sendai virus-induced fusions of cultured skin fibroblasts from seven unrelated patients with SJD. The enzyme deficiency in these patients may be due to very similar allelic mutations, not capable of undergoing complementation; or to different structural mutations, all coding for unstable beta hexosaminidase molecules.

UI	MeSH Term	Description	Entries
D008064	Lipidoses	Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.	Lipidosis,Lipoidosis
D008297	Male		Males
D009693	Nucleic Acid Hybridization	Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)	Genomic Hybridization,Acid Hybridization, Nucleic,Acid Hybridizations, Nucleic,Genomic Hybridizations,Hybridization, Genomic,Hybridization, Nucleic Acid,Hybridizations, Genomic,Hybridizations, Nucleic Acid,Nucleic Acid Hybridizations
D002459	Cell Fusion	Fusion of somatic cells in vitro or in vivo, which results in somatic cell hybridization.	Cell Fusions,Fusion, Cell,Fusions, Cell
D002478	Cells, Cultured	Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.	Cultured Cells,Cell, Cultured,Cultured Cell
D005260	Female		Females
D005347	Fibroblasts	Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.	Fibroblast
D005733	Gangliosidoses	A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.	Ganglioside Storage Diseases,Ganglioside Storage Disorders,Gangliosidosis,Ganglioside Storage Disease,Ganglioside Storage Disorder,Storage Disease, Ganglioside,Storage Diseases, Ganglioside,Storage Disorder, Ganglioside,Storage Disorders, Ganglioside
D005816	Genetic Complementation Test	A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.	Allelism Test,Cis Test,Cis-Trans Test,Complementation Test,Trans Test,Allelism Tests,Cis Tests,Cis Trans Test,Cis-Trans Tests,Complementation Test, Genetic,Complementation Tests,Complementation Tests, Genetic,Genetic Complementation Tests,Trans Tests
D006596	Hexosaminidases	Enzymes that catalyze the hydrolysis of N-acylhexosamine residues in N-acylhexosamides. Hexosaminidases also act on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES.	Galactosaminidases,Hexosaminidase,Galactosaminidase,Glucosaminidase,Glucosaminidases