Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

Steven J. Steinberg, Chandra P. Ward, Anthony H. Fensom

Research output: Contribution to journalArticlepeer-review

94 Scopus citations

Abstract

Niemann-Pick disease type C is a clinically heterogeneous storage disorder with an unknown primary metabolic defect. We have undertaken somatic cell hybridisation experiments using skin fibroblast strains from 12 patients representing a wide clinical spectrum. Preliminary experiments using filipin staining of free cholesterol as a marker for complementation indicated the existence of one major group (group α) and one minor group (group β) represented by one mutant strain. Subsequent experiments in which sphingomyelinase activity was measured as a marker for complementation using five mutant strains showing activity consistently < 40% control levels confirmed the existence of the second group.

Original languageEnglish (US)
Pages (from-to)317-320
Number of pages4
JournalJournal of medical genetics
Volume31
Issue number4
DOIs
StatePublished - Apr 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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