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Defective glucose metabolism in polycystic kidney disease identifies a new therapeutic strategy

Polycystic kidney disease is marked by progressive growth of renal tubular epithelia and thus the formation of pathological cysts in the organ over time. Alessandra Boletta and her colleagues now show that this cystic growth has the hallmarks of the Warburg effect (that is, the primary reliance of cells on glycolysis for their energy demands) and that blocking this effect in vivo is sufficient to improve disease progression in two mouse models.

Isaline Rowe
Marco Chiaravalli
Alessandra Boletta
Research24 Mar 2013
Nature Medicine

Volume: 19, P: 488-493
Fibrocystin/Polyductin releases a C-terminal fragment that translocates into mitochondria and suppresses cystogenesis

Fibrocystin/Polyductin (FPC) is a large ciliary membrane protein encoded by PKHD1 which, when mutated, causes ARPKD. Here, the authors show that FPC suppresses cyst development in the kidney of mouse models through the release and mitochondrial translocation of its C terminal product.

Rebecca V Walker
Qin Yao
Feng Qian
ResearchOpen Access16 Oct 2023
Nature Communications

Volume: 14, P: 1-17
Polycystin-1 Regulates Actomyosin Contraction and the Cellular Response to Extracellular Stiffness

Elisa Agnese Nigro
Gianfranco Distefano
Alessandra Boletta
ResearchOpen Access12 Nov 2019
Scientific Reports

Volume: 9, P: 1-15
Polycystin-1 binds Par3/aPKC and controls convergent extension during renal tubular morphogenesis

Loss-of-function mutations in PKD1, the gene encoding the plasma membrane receptor Polycystin-1, lead to renal cyst formation in polycystic kidney disease. Here, Castelli et al. show that Polycystin-1 interacts with the Par3 polarity complex and has a role in the morphogenesis of kidney tubules during mouse development.

Maddalena Castelli
Manila Boca
Alessandra Boletta
Research24 Oct 2013
Nature Communications

Volume: 4, P: 1-10
mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex

Polycystic kidney disease (PKD) is a ciliopathy resulting from defective localization of membrane proteins such as PC-1 to the primary cilium, resulting in renal cysts, and is associated with another cystic genetic disease called tuberous sclerosis complex (TSC). Here the authors use kidney-specific Tsc1 and Pkd1 mice to show that mTORC1 signalling inhibits PC-1 biogenesis as a potential mechanism of TSC/PKD contiguous gene syndrome.

Monika Pema
Luca Drusian
Alessandra Boletta
ResearchOpen Access02 Mar 2016
Nature Communications

Volume: 7, P: 1-11
Spatial metabolic tracing in the kidney — the future is now

A new study used metabolic tracing of the three main carbon sources (glucose, glutamine and lipids) on cultured slices of mouse kidneys to identify the dynamic metabolic changes that occur after injury in different segments of the kidney tubule at the single-cell level.

Alessandra Boletta
News & Views24 Oct 2022
Nature Reviews Nephrology

Volume: 19, P: 5-6
Reversing polycystic kidney disease

A new study shows that re-expressing PKD genes early in the course of the disease can fully reverse polycystic kidney disease in mice. These results reveal an unexpected ability of the kidney to regenerate following genetic rescue of polycystin function.

Alessandra Boletta
News & Views04 Nov 2021
Nature Genetics

Volume: 53, P: 1623-1624
Metabolic reprogramming in polycystic kidney disease explained by super-enhancers and CDK7: new therapeutic targets?

In this issue of Nature Metabolism, Mi and colleagues provide evidence that super-enhancers play a critical role in autosomal-dominant polycystic kidney disease (ADPKD) and show that CDK7 targeting provides a novel therapeutic option.

Laura Cassina
Alessandra Boletta
News & Views13 Jul 2020
Nature Metabolism

Volume: 2, P: 659-660
Primary cilia sense glutamine availability and respond via asparagine synthetase

Primary cilia are shown to adjust length in response to cellular nutrient availability, with a special role for glutamine-mediated anaplerosis via the enzyme ASNS, which was found to be located at the base of cilia. Consistently, cells lacking cilia show an altered response to glutamine during metabolic stress.

Maria Elena Steidl
Elisa A. Nigro
Alessandra Boletta
ResearchOpen Access06 Mar 2023
Nature Metabolism

Volume: 5, P: 385-397
Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents

Kazushige Hanaoka
Feng Qian
Gregory G. Germino
Research21 Dec 2000
Nature

Volume: 408, P: 990-994
Ciliary membrane proteins traffic through the Golgi via a Rabep1/GGA1/Arl3-dependent mechanism

Polycystins (PC) 1 and 2 are large transmembrane proteins that play a vital role in the function of primary cilia. Here, Kim et al. identify the requirements for polycystin trafficking to the cilium, involving a PC1–PC2 interaction, PC1 proteolytic cleavage and a specific trafficking module at the trans-Golgi network.

Hyunho Kim
Hangxue Xu
Feng Qian
ResearchOpen Access18 Nov 2014
Nature Communications

Volume: 5, P: 1-13
Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways

Christine Podrini et al. present a comprehensive analysis of Pkd1 mutant mouse cells and kidneys, providing new insight into autosomal dominant polycystic kidney disease (ADPKD). They find that Pkd1 loss leads to profound metabolic changes, including asparagine synthase-driven glutamine anaplerosis.

Christine Podrini
Isaline Rowe
Alessandra Boletta
ResearchOpen Access16 Nov 2018
Communications Biology

Volume: 1, P: 1-14
Metabolism and mitochondria in polycystic kidney disease research and therapy

In this Review, Caplan and colleagues describe the metabolic alterations in autosomal dominant polycystic kidney disease and how these might be novel therapeutic targets in the treatment of polycystic kidney disease.

Valeria Padovano
Christine Podrini
Michael J. Caplan
Reviews17 Aug 2018
Nature Reviews Nephrology

Volume: 14, P: 678-687
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Paola Carrera
Silvia Calzavara
Maurizio Ferrari
ResearchOpen Access08 Aug 2016
Scientific Reports

Volume: 6, P: 1-13
The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets

Daniela Iaconis
Maria Monti
Brunella Franco
ResearchOpen Access27 Apr 2017
Scientific Reports

Volume: 7, P: 1-15

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