Related Experiment Video
Updated: Jul 26, 2026
15:12
Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae
Published on: May 10, 2014
[From gene to disease: cystinosis]
E N Levtchenko1, M Wilmer, A C de Graaf-Hess
1Afd. Kindergeneeskunde, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen. e.levtchenko@cukz.umcn.nl
Nederlands Tijdschrift Voor Geneeskunde
|March 27, 2004
Summary
Cystinosis is a rare genetic disorder impairing lysosomal cystine transport. Early cysteamine therapy is crucial for managing symptoms and improving outcomes in affected children.
Area of Science:
- Genetics and Molecular Biology
- Lysosomal Storage Disorders
- Biochemistry
Context:
- Cystinosis is an autosomal recessive disorder characterized by impaired lysosomal cystine export.
- The infantile form presents with Fanconi syndrome and leads to renal failure by age 10 if untreated.
- The CTNS gene encodes cystinosin, a lysosomal cystine transporter.
Purpose:
- To elucidate the genetic basis and pathophysiology of cystinosis.
- To understand the mechanism of lysosomal cystine accumulation and its clinical manifestations.
- To evaluate therapeutic strategies for cystinosis.
Summary:
- Cystinosis results from mutations in the CTNS gene, leading to lysosomal cystine accumulation.
- ATP depletion in lysosomes is observed in experimental models of cystinosis.
- Cysteamine treatment depletes lysosomal cystine via disulfide exchange and is essential for patient management.
Impact:
- Early intervention with cysteamine therapy can improve life expectancy and manage disease progression.
- Continuous treatment is necessary even after renal transplantation due to ongoing extra-renal damage.
- Requires specialized care from internists focusing on rare diseases to improve patient outcomes.
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01:35Mutations
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