Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease
Open accessAbstract
encode transmembrane proteins polycystin 1 (PC1) and polycystin 2 (PC2), respectively. Together, the polycystins localize to the solitary primary cilium that protrudes from the apical surface of most kidney tubule cells and is thought to function as a privileged compartment that the cell uses for signal integration of sensory inputs. It has been proposed that PC1 and PC2 form a receptor-channel complex that detects external stimuli and transmit a local calcium-mediated signal, which may control a multitude of cellular processes by an as-yet unknown mechanism. Genetic studies using mouse models of cilia and polycystin dysfunction have shown that polycystins regulate an unknown cilia-dependent signal that is normally part of the homeostatic maintenance of nephron structure. ADPKD ensues when this pathway is dysregulated by absence of polycystins from intact cilia, but disruption of cilia also disrupts this signaling mechanism and ameliorates ADPKD even in the absence of polycystins. Understanding the role of cilia and ciliary signaling in ADPKD is challenging, but success will provide saltatory advances in our understanding of how tubule structure is maintained in healthy kidneys and how disruption of polycystin or cilia function leads to the pathological tissue remodeling process underlying ADPKD.
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Mutations in the genes encoding PC1 and PC2 lead to autosomal dominant polycystic kidney disease, characterized by adult-onset development of kidney and liver cysts.
“The physiological importance of the polycystins is underscored by the fact that mutations in the corresponding genes lead to ADPKD — a disease characterized by the adult-onset development of kidney and liver cysts 85, 86.”
From Cellular signalling by primary cilia in development, organ function and disease (2019) · cites this paper as [85]
The paper’s Abstract identifies PKD1 and PKD2 as the genes encoding PC1 and PC2 and says that ADPKD commonly involves kidney and liver cysts. It says kidney cysts typically become clinically apparent by the fourth decade, not that kidney and liver cysts both begin developing in adulthood; it also notes that kidney cysts can be present early in life. The adult-onset development qualifier is therefore not supported as stated. (LLM, conf=0.86)
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Characterization of Primary Cilia in Osteoblasts Isolated From Patients With ADPKD and CKD
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- Authors
- Ma, M., Gallagher, A.-R., & Somlo, S.
- Affiliations
- Yale University (US)
- Corresponding author
- Somlo, Stefan
- Venue
- Cold Spring Harbor Perspectives in Biology
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2017-03-20
- Volume
- 9
- Issue
- 11
- Pages
- a028209
- ISSN
- 1943-0264 (ISSN-L)
- PMC
- PMC5666631
- OpenAlex
- W2598474916
- Cited by
- 133
- References
- 123
- Citations by year
- 2026: 9 · 2025: 18 · 2024: 12 · 2023: 19 · 2022: 11 · 2021: 18 · 2020: 13 · 2019: 18 · 2018: 10 · 2017: 4 · 2016: 1
- Type
- posted content
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Cold Spring Harbor Perspectives in Biology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- PKD Australia
- National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK100592, R01DK054053, R01DK051041)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Keywords
- polycystic kidney disease, primary cilia, polycystin-1, polycystin-2, ciliary signaling, cyst formation, calcium signaling, tissue remodeling, ciliary dysfunction
- MeSH terms
- Animals, Cilia, Cysts, Homeostasis, Humans, Signal Transduction, Polycystic Kidney, Autosomal Dominant, Hedgehog Proteins
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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