Correction of celluar metachromasia in cultured fibroblasts in several inherited mucopolysaccharidoses.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 67 ·No. 1 ·1970-09-00 ·Pages 357-64

Danes BS, Bearn AG

Abstract

Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of the polyanionic glycosaminoglycans (mucopolysaccharides); histochemical staining with the cationic dyes toluidine blue O and Alcian blue detects such intracellular accumulation. With these stains as phenotypic markers, correction of the cellular abnormality by fibroblasts derived from different patients and their heterozygous parents has been observed among several genetic types of mucopolysaccharidoses. In this way, syndromes previously considered clinically homogeneous have been separated into distinct groups.

MeSH Terms

Albinism/complications Carbohydrate Metabolism, Inborn Errors/metabolism Cell Line Coloring Agents Culture Techniques Female Fibroblasts/metabolism Glycosaminoglycans/metabolism Hematologic Diseases/genetics,metabolism Heterozygote Histocytochemistry Humans Intellectual Disability/metabolism Leukocytes Light Lymphocytes Mucopolysaccharidoses/genetics,metabolism Mucopolysaccharidosis IV/metabolism Phenothiazines Retinitis Pigmentosa/genetics,metabolism Staining and Labeling

Chemicals

Coloring Agents Glycosaminoglycans Phenothiazines

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Danes B S

Bearn A G

References (15)

15 references, click to expand

Cystic fibrosis of the pancreas. A study in cell culture.
J Exp Med. 1969 Apr 1;129(4):775-93 PMID: 4237349
Acid mucopolysaccharides in cultured human fibroblasts.
Lancet. 1969 Oct 18;2(7625):838-41 PMID: 4186295
Diagnostic limitations of metachromasia.
N Engl J Med. 1969 Nov 13;281(20):1128-9 PMID: 4186418
Differential staining of acid glycosaminoglycans (mucopolysaccharides) by alcian blue in salt solutions.
Histochemie. 1965 Oct 1;5(3):221-33 PMID: 4223499
Clonal growth of mammalian cells in vitro; growth characteristics of colonies from single HeLa cells with and without a feeder layer.
J Exp Med. 1956 Feb 1;103(2):273-83 PMID: 13286432
Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis.
J Exp Med. 1967 Sep 1;126(3):509-22 PMID: 4962269
Gargoylism; a mucopolysaccharidosis.
Scand J Clin Lab Invest. 1952;4(1):43-6 PMID: 14921802
A genetic study of cystic fibrosis of the pancreas in cell culture.
Trans Assoc Am Physicians. 1969;82:248-52 PMID: 4911995
Excretion of sulfated mucopolysaccharides in gargoylism (Hurler's syndrome).
Proc Soc Exp Biol Med. 1958 Feb;97(2):275-9 PMID: 13518247
The nosology of the mucopolysaccharidoses.
Am J Med. 1969 Nov;47(5):730-47 PMID: 4242813
Sex chromatin and gene action in the mammalian X-chromosome.
Am J Hum Genet. 1962 Jun;14:135-48 PMID: 14467629
Hurler's syndrome: deficiency of a specific beta galactosidase isoenzyme.
Science. 1969 Aug 8;165(3893):611-3 PMID: 4978465
The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide.
Proc Natl Acad Sci U S A. 1968 Jun;60(2):699-706 PMID: 4236091
Hurler's syndrome. Effect of retinol (vitamin A alcohol) on cellular mucopolysaccharides in cultured human skin fibroblasts.
J Exp Med. 1966 Dec 1;124(6):1181-98 PMID: 4224371
Deficiency of 4-methyl umbelliferyl-beta-galactosidase activity in the liver of seven patients with Hurler's disease.
Maandschr Kindergeneeskd. 1969 Apr;36(12):377-83 PMID: 4976672

Article Info

Journal

Proceedings of the National Academy of Sciences of the United States of America

Abbr.

Proc Natl Acad Sci U S A

ISSN

0027-8424

DOI

10.1073/pnas.67.1.357

Published

1970-09-00

Pages

357-64

Language

English

Region

United States

NLM ID

7505876

PMCID

PMC283213

Subset

External Links

PubMed source DOI: 10.1073/pnas.67.1.357 PMC Full Text View journal details

Analysis Services

Correction of celluar metachromasia in cultured fibroblasts in several inherited mucopolysaccharidoses.

Contact

WeChat Official Account