ArticleScientific reports2016
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Adult complications of nephropathic cystinosis: a systematic review.Pediatric nephrology (Berlin, Germany) · 2021Pooled it
- Nociception and pain in humans lacking a functional TRPV1 channel.The Journal of clinical investigation · 2023Article
- Striving toward hyperthermia-free analgesia: lessons from loss-of-function mutations of human TRPV1.The Journal of clinical investigation · 2023Article
- Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.European journal of human genetics : EJHG · 2020Article
- Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis.Kidney international reports · 2018Article
- Use of Capsaicin to Treat Pain: Mechanistic and Therapeutic Considerations.Pharmaceuticals (Basel, Switzerland) · 2016Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystinosis is a rare autosomal recessive disorder characterized by lysosomal cystine accumulation due to loss of function of the lysosomal cystine transporter (CTNS). The most common mutation in cystinosis patients of Northern Europe consists of a 57-kb deletion. This deletion not only inactivates the CTNS gene but also extends into the non-coding region upstream of the start codon of the TRPV1 gene, encoding the capsaicin- and heat-sensitive ion channel TRPV1. To evaluate the consequences of the 57-kb deletion on functional TRPV1 expression, we compared thermal, mechanical and chemical sensitivity of cystinosis patients with matched healthy controls. Whereas patients heterozygous for the 57-kb deletion showed normal sensory responses, homozygous subjects exhibited a 60% reduction in vasodilation and pain evoked by capsaicin, as well as an increase in heat detection threshold. Responses to cold, mechanical stimuli or cinnamaldehyde, an agonist of the related nociceptor channel TRPA1, were unaltered. We conclude that cystinosis patients homozygous for the 57-kb deletion exhibit a strong reduction of TRPV1 function, leading to sensory deficiencies akin to the phenotype of TRPV1-deficient mice. These deficits may account for the reported sensory alterations and thermoregulatory deficits in these patients, and provide a paradigm for life-long TRPV1 deficiency in humans.
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