Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.

Clinical Journal of the American Society of Nephrology : CJASN
Matthew B LanktreeYork Pei

Abstract

Autosomal dominant polycystic kidney disease is the most common monogenic cause of ESKD. Genetic studies from patients and animal models have informed disease pathobiology and strongly support a "threshold model" in which cyst formation is triggered by reduced functional polycystin dosage below a critical threshold within individual tubular epithelial cells due to (1) germline and somatic PKD1 and/or PKD2 mutations, (2) mutations of genes (e.g., SEC63, SEC61B, GANAB, PRKCSH, DNAJB11, ALG8, and ALG9) in the endoplasmic reticulum protein biosynthetic pathway, or (3) somatic mosaicism. Genetic testing has the potential to provide diagnostic and prognostic information in cystic kidney disease. However, mutation screening of PKD1 is challenging due to its large size and complexity, making it both costly and labor intensive. Moreover, conventional Sanger sequencing-based genetic testing is currently limited in elucidating the causes of atypical polycystic kidney disease, such as within-family disease discordance, atypical kidney imaging patterns, and discordant disease severity between total kidney volume and rate of eGFR decline. In addition, environmental factors, genetic modifiers, and somatic mosaicism also contribute to disease ...Continue Reading

References

Apr 12, 1997·Lancet·A C Ong, P C Harris
Oct 23, 1997·American Journal of Human Genetics·J R SampsonP C Harris
Jan 13, 2001·American Journal of Human Genetics·Y PeiP St George-Hyslop
Oct 22, 2004·Human Molecular Genetics·Irma S Lantinga-van LeeuwenDorien J M Peters
Jan 29, 2005·Journal of the American Society of Nephrology : JASN·Andrew D PatersonYork Pei
Jun 22, 2007·Journal of the American Society of Nephrology : JASN·Sandro RossettiUNKNOWN CRISP Consortium
Oct 24, 2008·Journal of the American Society of Nephrology : JASN·York PeiDavid Ravine
Apr 4, 2009·Human Molecular Genetics·Ayumi TakakuraJing Zhou
Oct 29, 2011·Journal of the American Society of Nephrology : JASN·Carsten BergmannKlaus Zerres
Mar 3, 2012·Journal of the American Society of Nephrology : JASN·Sandro RossettiPeter C Harris
Oct 16, 2012·The Journal of Clinical Investigation·Katharina HoppPeter C Harris
Feb 5, 2014·Trends in Molecular Medicine·Sorin V FedelesStefan Somlo
Jun 4, 2014·The Journal of Clinical Investigation·Peter C Harris, Vicente E Torres
Jun 7, 2014·Journal of the American Society of Nephrology : JASN·María V IrazabalUNKNOWN CRISP Investigators
Jul 31, 2014·Journal of the American Society of Nephrology : JASN·York PeiMasoom A Haider
Nov 2, 2014·Journal of the American Society of Nephrology : JASN·Wouter N LeonhardDorien J M Peters
Mar 5, 2015·Kidney International·Kai-Uwe EckardtUNKNOWN Kidney Disease: Improving Global Outcomes
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Apr 26, 2015·Trends in Genetics : TIG·Ian M CampbellJames R Lupski
Jul 4, 2015·Journal of the American Society of Nephrology : JASN·Marie-Pierre AudrézetLaurence Heidet
Jul 8, 2015·Journal of the American Society of Nephrology : JASN·Emilie Cornec-Le GallYannick Le Meur
Jul 23, 2015·Kidney International·Albert C M Ong, Peter C Harris
Oct 11, 2015·Journal of the American Society of Nephrology : JASN·Young-Hwan HwangYork Pei
Jun 22, 2016·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Cynthia J WilleyFrank S Czerwiec
Apr 5, 2017·Journal of the American Society of Nephrology : JASN·Oscar Rubio CabezasDetlef Bockenhauer
May 20, 2017·Journal of the American Society of Nephrology : JASN·Ioan-Andrei IliutaYork Pei
Jul 21, 2017·Expert Review of Molecular Diagnostics·Xuewen SongYork Pei
Sep 2, 2017·The Journal of Clinical Investigation·Whitney BesseStefan Somlo
Oct 11, 2017·Nature Reviews. Nephrology·Matthew B Lanktree, Arlene B Chapman
Oct 19, 2017·Journal of the American Society of Nephrology : JASN·Emilie Cornec-Le GallPeter C Harris
May 1, 2018·American Journal of Human Genetics·Emilie Cornec-Le GallPeter C Harris
Jul 26, 2018·Journal of the American Society of Nephrology : JASN·Adrian Y TanHanna Rennert
Aug 24, 2018·Journal of the American Society of Nephrology : JASN·Matthew B LanktreeYork Pei
Aug 31, 2018·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Matthew B LanktreeYork Pei
Mar 2, 2019·Lancet·Emilie Cornec-Le GallRonald D Perrone
Jul 19, 2019·KI Reports·Matthew B LanktreeYork Pei
Jul 31, 2019·The Journal of Clinical Investigation·Jacob A TorresThomas Weimbs
Aug 10, 2019·Journal of the American Society of Nephrology : JASN·Whitney BesseTooraj Mirshahi
Dec 26, 2019·Kidney International·Katharina HoppPeter C Harris

❮ Previous
Next ❯

Citations

Mar 7, 2021·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Eleanor HayAngela Barnicoat
Mar 27, 2021·Journal of the American Society of Nephrology : JASN·Lihe ChenMark A Knepper
May 8, 2021·Biochemical Society Transactions·Miguel Barroso-GilJohn A Sayer
May 20, 2021·Radiology Case Reports·Christopher Shin, Leonard Berliner
Jul 3, 2021·International Journal of Molecular Sciences·Johannes LeiererGert Mayer
Oct 31, 2021·Journal of the American Society of Nephrology : JASN·Zhengmao ZhangHanna Rennert

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

International Journal of Molecular and Cellular Medicine
Javad JamshidiHossein Darvish
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences
Fatemeh Bitarafan, Masoud Garshasbi
Current Opinion in Nephrology and Hypertension
V E Torres
© 2021 Meta ULC. All rights reserved