Polycystic kidney disease – where gene dosage counts
نویسندگان
چکیده
Gene dosage effects have emerged as playing a central role in the pathogenesis of polycystic kidney disease. Yet, how gene dosage can ultimately have an impact on the formation of kidney cysts remains unknown. In this commentary we review the evidence for the role of gene dosage effects versus the "2-hit" mutation model in polycystic kidney disease (PKD), and also discuss how gene networks may potentially make intertwined contributions to PKD.
منابع مشابه
Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...
متن کاملIdentification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
متن کاملExon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrate...
متن کاملMicroRNAs and Polycystic Kidney Disease.
Polycystic kidney disease (PKD), the most common genetic cause of chronic renal failure, is characterized by the presence of numerous fluid-filled cysts in renal parenchyma. Despite recent progress, no FDA-approved therapy is available to retard cyst growth. Here, we review current evidence implicating two groups of miRNAs - the miR-17~92 cluster and miR-200s - in the pathogenesis of PKD. We pr...
متن کاملReduced Pax2 gene dosage increases apoptosis and slows the progression of renal cystic disease.
The murine cpk mouse develops a rapid-onset polycystic kidney disease (PKD) with many similarities to human PKD. During kidney development, the transcription factor Pax2 is required for the specification and differentiation of the renal epithelium. In humans, Pax2 is also expressed in juvenile cystic kidneys where it correlates with cell proliferation. In this report, Pax2 expression is demonst...
متن کامل