Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion.

Human genetics ·Vol. 41 ·No. 3 ·1978-04-24 ·Pages 325-9

Wood S

Abstract

Juvenile Sandhoff, Sandhoff, and Tay-Sachs fibroblasts were mixed in paired combinations and treated with polyethylene glycol (PEG) to promote cell fusion. The hexosaminidase (hex) isozymes of PEG-treated mixed-cell cultures were determined and compared with those of untreated control cultures. Fusions involving juvenile Sandhoff and Sandhoff fibroblasts did not show an increase in either total hexosaminidase or heat-stable hex B. Fusions of juvenile Sandhoff (or Sandhoff) and Tay-Sachs fibroblasts showed an increase of heat-labile hex A. Thus, juvenile Sandhoff cells show complementation with Tay-Sachs cells but not Sandhoff cells. Consequently, the genetic defect in juvenile Sandhoff disease probably represents an allelic mutation of the gene that is defective in Sandhoff disease.

MeSH Terms

Cell Fusion Fibroblasts/enzymology Gangliosidoses/enzymology Hexosaminidases/genetics Humans Isoenzymes/genetics Lipidoses/enzymology Mutation Polyethylene Glycols

Chemicals

Isoenzymes Polyethylene Glycols Hexosaminidases

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Wood S

References (15)

15 references, click to expand

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Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.
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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00284766

Published

1978-04-24

Pages

325-9

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00284766 View journal details

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Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion.

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