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Answers for kids with inherited kidney disease

A new gene behind a rare form of inherited childhood kidney disease has been identified by a global research team. University of Queensland was part of the team that made the discovery to improve genetic testing and provide clues for future treatments of autosomal recessive polycystic kidney disease (ARPKD).

Carol Wicking PhD, at the University of Queensland (UQ) Institute for Molecular Bioscience, and lead author of the study, explains it had previously been difficult to determine the underlying causes of ARPKD. "It was thought that errors in a gene called PKHD1 were solely to blame for this rare form of kidney disease," explained Wicking. "But there were always a subset of patients who appeared to have the disease, even though they possessed a normal version of the PKHD1 gene. The aim of this study was to find other genetic culprits that could be responsible for this devastating condition."

RPKD causes enlarged kidneys, liver problems and high blood pressure, and often leads to renal failure in the 70 per cent of patients who survive the first weeks of life.

"The gene DZIP1L appears to be related to the function of cilia, small antenna-like extensions projecting from almost all cells of the body, including in the kidney. They play an important role in controlling vital cellular functions. DZIP1L makes a protein that acts at the base of the cilium, and if faulty, causes a domino effect leading to problems in all cilia and, in turn, a malfunctioning kidney.
ARPKD has a more complex cause than originally thought. Our work is to understand this rare disease and eventually help manage both rare and more common forms of polycystic kidney disease."

Carol Wicking PhD, Associate Professor, University of Queensland Institute for Molecular Bioscience, Brisbane, Queensland, Australia, and lead author of the study.

Many patients with a rare disease wait years for a genetic diagnosis and often endure multiple misdiagnoses. The work is published in Nature Genetics.

"These findings highlight how new genomic technologies are helping to find answers for patients with rare diseases, giving them more certainty about their condition. Having a genetic diagnosis also gives patients and their families a chance to connect with other people living with a similar rare disease to build vital support networks."

Nicole Millis, Executive Director, Rare Voices Australia.

Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneous disease caused by mutations in PKHD1, is associated with ciliary dysfunction. In the paper, we describe mutations in DZIP1L, which encodes DAZ interacting protein 1-like, in patients with ARPKD. We further validated these findings through loss-of-function studies in mice and zebrafish. DZIP1L localizes to centrioles and to the distal ends of basal bodies, and interacts with septin2, a protein implicated in maintenance of the periciliary diffusion barrier at the ciliary transition zone. In agreement with a defect in the diffusion barrier, we found that the ciliary-membrane translocation of the PKD proteins polycystin-1 and polycystin-2 is compromised in DZIP1L-mutant cells. Together, these data provide what is, to our knowledge, the first conclusive evidence that ARPKD is not a homogeneous disorder and further establish DZIP1L as a second gene involved in ARPKD pathogenesis.

Other authors: Hao Lu, Maria C Rondón Galeano, Elisabeth Ott, Geraldine Kaeslin, P Jaya Kausalya, Carina Kramer, Nadina Ortiz-Brüchle, Nadescha Hilger, Vicki Metzis, Milan Hiersche, Shang Yew Tay, Robert Tunningley, Shubha Vij, Andrew D Courtney, Belinda Whittle, Elke Wühl, Udo Vester, Björn Hartleben, Steffen Neuber, Valeska Frank, Melissa H Little, Daniel Epting, Peter Papathanasiou, Andrew C Perkins, Graham D Wright, Walter Hunziker, Heon Yung Gee, Edgar A Otto, Klaus Zerres, Friedhelm Hildebrandt, Sudipto Roy, Carol Wicking & Carsten Bergmann

Keywords: Genetic linkage study Genetic testing Polycystic kidney disease

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May 30, 2017   Fetal Timeline   Maternal Timeline   News   News Archive   

(LEFT) Normal Kidney development (MIDDLE) Autosomal Recessive Polycystic
Kidney Disease (RIGHT) Autosomal Dominant Polycystic Kidney Disease
Image Credit:The Translational Polycystic Kidney Disease Center
at Mayo Clinic


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