Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Nephronophthisis-associated ciliopathies.

Friedhelm Hildebrandt1, Weibin Zhou

  • 1Department of Pediatrics, University of Michigan Health System, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-0646, USA. fhilde@umich.edu

Journal of the American Society of Nephrology : JASN
|May 22, 2007
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A protein interactome for the last eukaryotic common ancestor illuminates the biochemical basis of modern genetic diseases.

Cell genomics·2026
Same author

From discovery to therapeutic development of monoclonal antibodies.

Journal of controlled release : official journal of the Controlled Release Society·2026
Same author

SIRT5 Ameliorates Cardiac Fibrosis via PCK2 Desuccinylation-Mediated Metabolic Reprogramming in Cardiac Fibroblasts.

Circulation·2026
Same author

How variant discovery redefines genetic prevalence: the case of cystine stone disease.

European journal of human genetics : EJHG·2026
Same author

<i>NPHS2</i> Revisited Through 208 Cases and Podocin Complex Modeling.

Kidney international reports·2026
Same author

Sex-specific single transcript level atlas of vasopressin and its receptor (AVPR1a) in the mouse brain.

eLife·2026
Same journal

Autosomal Dominant Tubulointerstitial Kidney Disease: My Kingdom for a Biomarker.

Journal of the American Society of Nephrology : JASN·2026
Same journal

Beyond the Margin: Improving Noninferiority Trials of Kidney Transplant Immunosuppression.

Journal of the American Society of Nephrology : JASN·2026
Same journal

Parathyroid Hormone Receptor 1 Facilitates Cyst Growth in Genetic Models of Autosomal Dominant Polycystic Kidney Disease.

Journal of the American Society of Nephrology : JASN·2026
Same journal

Alanyl-tRNA Synthetase 1 and Cyst Growth in Autosomal Dominant Polycystic Kidney Disease.

Journal of the American Society of Nephrology : JASN·2026
Same journal

Evaluating Barriers to Kidney Transplantation in the United States.

Journal of the American Society of Nephrology : JASN·2026
Same journal

Comparing Catheters to Fistulas in Older Patients Starting Hemodialysis (ACCESS HD).

Journal of the American Society of Nephrology : JASN·2026
See all related articles

Nephronophthisis (NPHP) is a genetic kidney disease causing kidney failure in young adults. Mutations in NPHP genes disrupt primary cilia function, explaining multi-organ effects and offering new therapeutic targets.

Area of Science:

  • Nephrology
  • Genetics
  • Cell Biology

Background:

  • Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease, a leading genetic cause of end-stage kidney disease in individuals under 30.
  • Unlike polycystic kidney disease, NPHP is characterized by normal or reduced kidney size, corticomedullary junction cysts, and prominent tubulointerstitial fibrosis.
  • NPHP can present with extrarenal manifestations, including retinitis pigmentosa (Senior-Løken syndrome) and cerebellar vermis aplasia (Joubert syndrome).

Purpose of the Study:

  • To explore the genetic basis of Nephronophthisis (NPHP) and its underlying molecular mechanisms.
  • To advance the understanding of cystic kidney diseases through the unifying concept of "ciliopathies."
  • To identify potential therapeutic targets by elucidating signaling pathways affected in NPHP.

Related Experiment Videos

Main Methods:

  • Positional cloning was employed to identify six novel genes (NPHP1-6) mutated in NPHP patients.
  • Functional characterization of the encoded nephrocystin proteins.
  • Review of existing literature on genetic kidney diseases and primary cilia function.

Main Results:

  • Identification of six causative NPHP genes and their protein products, nephrocystins.
  • Demonstration that NPHP gene products are expressed in primary cilia or centrosomes of renal epithelial cells.
  • Support for the unifying "ciliopathy" theory, linking NPHP to other genetic disorders with shared ciliary defects.

Conclusions:

  • NPHP is caused by defects in primary cilia, sensory organelles crucial for cell signaling and polarity.
  • Impaired ciliary function leads to disrupted tissue differentiation and maintenance, explaining multi-organ involvement.
  • Further research into NPHP genes and signaling pathways, utilizing animal models, is crucial for developing therapeutic strategies.