Lysosomal Cystine Counter-transport in Heterozygotes for Cystinosis

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1984 Mar 1

PMID 6711558

Citations 17

Authors

W A Gahl

N Bashan

F Tietze

J D Schulman

Affiliations

Soon will be listed here.

Abstract

Heterozygotes for cystinosis exhibited approximately half the normal rate of cystine counter-transport into isolated leukocyte lysosomes. This gene-dosage effect strongly supports previous findings demonstrating that the basic defect in cystinosis is impaired cystine transport across the lysosomal membrane. The method was used to determine the cystinosis carrier status for siblings of affected children in two families with cystinosis.

Citing Articles

Hierarchical processing of visual stimuli in nephropathic cystinosis.

Sathappan A, Trauner D J Inherit Metab Dis. 2019; 42(3):545-552.

PMID: 30671973 PMC: 6483842. DOI: 10.1002/jimd.12062.

Treatment of corneal cystine crystal accumulation in patients with cystinosis.

Shams F, Livingstone I, Oladiwura D, Ramaesh K Clin Ophthalmol. 2014; 8:2077-84.

PMID: 25336909 PMC: 4199850. DOI: 10.2147/OPTH.S36626.

Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.

Al-Haggar M World J Nephrol. 2013; 2(4):94-102.

PMID: 24255892 PMC: 3832870. DOI: 10.5527/wjn.v2.i4.94.

Cognition in nephropathic cystinosis: pattern of expression in heterozygous carriers.

Niemiec S, Ballantyne A, Trauner D Am J Med Genet A. 2012; 158A(8):1902-8.

PMID: 22786804 PMC: 3402617. DOI: 10.1002/ajmg.a.35467.

Craniofacial and dental findings in cystinosis.

Bassim C, Gautam P, Domingo D, Balog J, Guadagnini J, Gahl W Oral Dis. 2010; 16(5):488-95.

PMID: 20233313 PMC: 2888839. DOI: 10.1111/j.1601-0825.2010.01662.x.

References

Schneider J, Bradley K, Seegmiller J . Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis. Science. 1967; 157(3794):1321-2. DOI: 10.1126/science.157.3794.1321. View

Oshima R, Willis R, Furlong C, Schneider J . Binding assays for amino acids. The utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples. J Biol Chem. 1974; 249(19):6033-9. View

Steinherz R, Tietze F, Raiford D, Gahl W, Schulman J . Patterns of amino acid efflux from isolated normal and cystinotic human leucocyte lysosomes. J Biol Chem. 1982; 257(11):6041-9. View

Steinherz R, Tietze F, Triche T, Modesti A, Gahl W, Schulman J . Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester. N Engl J Med. 1982; 306(24):1468-70. DOI: 10.1056/NEJM198206173062407. View

Gahl W, Tietze F, Bashan N, Steinherz R, Schulman J . Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes. J Biol Chem. 1982; 257(16):9570-5. View

Gahl W, Bashan N, Tietze F, Bernardini I, Schulman J . Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science. 1982; 217(4566):1263-5. DOI: 10.1126/science.7112129. View

Steinherz R, Tietze F, Gahl W, Triche T, Chiang H, Modesti A . Cystine accumulation and clearance by normal and cystinotic leukocytes exposed to cystine dimethyl ester. Proc Natl Acad Sci U S A. 1982; 79(14):4446-50. PMC: 346689. DOI: 10.1073/pnas.79.14.4446. View

Jonas A, Smith M, Schneider J . ATP-dependent lysosomal cystine efflux is defective in cystinosis. J Biol Chem. 1982; 257(22):13185-8. View

Gahl W, Tietze F, Bashan N, Bernardini I, Raiford D, Schulman J . Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions. Biochem J. 1983; 216(2):393-400. PMC: 1152516. DOI: 10.1042/bj2160393. View

10.

LOWRY O, ROSEBROUGH N, FARR A, RANDALL R . Protein measurement with the Folin phenol reagent. J Biol Chem. 1951; 193(1):265-75. View

11.

Wilbrandt W, Rosenberg T . The concept of carrier transport and its corollaries in pharmacology. Pharmacol Rev. 1961; 13:109-83. View

12.

Schneider J, Rosenbloom F, Bradley K, Seegmiller J . Increased free-cystine content of fibroblasts cultured from patients with cystinosis. Biochem Biophys Res Commun. 1967; 29(4):527-31. DOI: 10.1016/0006-291x(67)90516-5. View