ArticleThe Journal of clinical investigation2014
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
Article in The Journal of clinical investigation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 75 citations in OpenAlex.
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- IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.PLoS genetics · 2025Article
- Human and rat ex vivo sweat glands for the observation of acetylcholine induced intracellular calcium signalling.PloS one · 2025Article
- A pleiotropic recurrent dominantScience advances · 2024Article
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- Understanding IPCell calcium · 2023Review
- Disrupted CaCellular & molecular immunology · 2023Article
- Missense mutations in inositol 1,4,5-trisphosphate receptor type 3 result in leaky CaiScience · 2022Article
- [Research advances on the regulatory mechanism of sweat secretion ion channels of eccrine sweat glands].Zhonghua shao shang yu chuang mian xiu fu za zhi · 2022Review
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- CREB regulates the expression of type 1 inositol 1,4,5-trisphosphate receptors.Journal of cell science · 2021Article
- New loci and neuronal pathways for resilience to heat stress in cattle.Scientific reports · 2021Article
- Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.Human genetics · 2021Article
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- Global warming, heat-related illnesses, and the dermatologist.International journal of women's dermatology · 2021Review
- Astrocytic IPFrontiers in cellular neuroscience · 2021Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There are 3 major sweat-producing glands present in skin; eccrine, apocrine, and apoeccrine glands. Due to the high rate of secretion, eccrine sweating is a vital regulator of body temperature in response to thermal stress in humans; therefore, an inability to sweat (anhidrosis) results in heat intolerance that may cause impaired consciousness and death. Here, we have reported 5 members of a consanguineous family with generalized, isolated anhidrosis, but morphologically normal eccrine sweat glands. Whole-genome analysis identified the presence of a homozygous missense mutation in ITPR2, which encodes the type 2 inositol 1,4,5-trisphosphate receptor (InsP3R2), that was present in all affected family members. We determined that the mutation is localized within the pore forming region of InsP3R2 and abrogates Ca2+ release from the endoplasmic reticulum, which suggests that intracellular Ca2+ release by InsP3R2 in clear cells of the sweat glands is important for eccrine sweat production. Itpr2-/- mice exhibited a marked reduction in sweat secretion, and evaluation of sweat glands from Itpr2-/- animals revealed a decrease in Ca2+ response compared with controls. Together, our data indicate that loss of InsP3R2-mediated Ca2+ release causes isolated anhidrosis in humans and suggest that specific InsP3R inhibitors have the potential to reduce sweat production in hyperhidrosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.