Projects
Analysis of Calcium signaling in autosomal dominant polycystic kidney disease. KU Leuven
Mutations in the genes encoding the polycystin-1 and -2 proteins lead to autosomal dominant polycystic kidney disease (ADPKD), the most common inherited renal disease. The molecular mechanisms underlying the formation of renal cysts are poorly characterized, although better knowledge of these mechanisms could have important therapeutic consequences. In this project, we aim to identify how polycystin mutations affects cellular signaling ...
The role of Ca2+ signaling for cyst formation in autosomal dominant polycystic kidney disease KU Leuven
Mutations in the genes encoding the polycystin-1 and -2 proteins lead to autosomal polycystic kidney disease (ADPKD), the most common inherited nephropathy leading to renal failure. The molecular mechanisms underlying the formation of renal cysts are poorly characterized, although better knowledge of these mechanisms could have important therapeutic consequences. Loss-of-function of polycystin-1 and -2 result in the activation of several ...
Cytopenia and Autosomal Dominant Polycystic Kidney Disease (ADPKD) KU Leuven
The genetic basis of ADPKD is well known but the pathogenic role of the polycystins is poorly understood. Apart from the well-known effect of the intrinsic loss of PC-1 and PC-2 on cyst proliferation and growth, an important pathophysiological role is attributed to the immune system, both adaptive and innate. Thus, the infiltration of immune cells may be directly caused by the underlying molecular PKD defects. Recently we have reviewed the ...
Translational characterization of cellular and tissular metabolic perturbations in autosomal dominant polycystic kidney disease KU Leuven
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. ADPKD is characterized by the bilateral development of renal cysts and leads to end-stage renal disease around the age of 60 years. Cystogenesis starts already in childhood. ADPKD results from mutations in PKD1 and PKD2 genes, encoding the polycystins (PCs) 1 and 2, respectively.The alterations of intracellular Ca²+ homeostasis caused by PC ...
Exploring the apelinergic system in autosomal dominant polycystic kidney disease KU Leuven
Autosomal dominant polycystic kidney disease (ADPKD), characterized by the development of renal cysts, represents the 4th common cause of end-stage kidney disease worldwide. The sole disease-modifying drug is the vasopressin (AVP) receptor 2 antagonist tolvaptan, but its limited therapeutic effect and significant side effects warrant novel drugs. The antidiuretic effect of AVP is counteracted by apelin. Together with apela and the apelin ...
Exploring the apelinergic system in autosomal dominant polycystic kidney disease KU Leuven
Autosomal dominant polycystic kidney disease (ADPKD), affecting approximately 1 in 1000 individuals worldwide, is generally diagnosed and treated in adulthood, but renal cysts already originate in childhood. The only current drug disease modifier in adult ADPKD is Tolvaptan, a vasopressin receptor 2 antagonist. However, there is an unmet need for novel drug strategies. While it is often assumed that water excretion is a passive phenomenon, ...
Exploring the apelinergic system in autosomal dominant polycystic kidney disease. Vrije Universiteit Brussel
characterized by the development of renal cysts, represents the 4th
common cause of end-stage kidney disease worldwide. The sole
disease-modifying drug is the vasopressin (AVP) receptor 2
antagonist tolvaptan, but its limited therapeutic effect and significant
side effects warrant novel drugs. The antidiuretic effect of AVP is
counteracted by apelin. ...
Research into biomarkers for early detection of Autosomal Dominant Polycystic Kidney Disease KU Leuven
The kidneys, two bean shaped organs located on either side of the spine in the back of the abdomen, are important excretory organs of the human body. Apart from the removal of waste, kidneys have other important functions such as maintaining the blood pressure and the activation of vitamin D. Since these tasks are essential for a healthy life, we can say that a good renal function is vital. Nevertheless, today exist a variety of kidney ...
Translational research into early stages of Autosomal Dominant Polycystic Kidney Disease (ADPKD) KU Leuven
Autosomal dominant polycystic kidney disease (ADPKD) affects up to
13 million individuals and is the 4th common cause of end-stage
kidney disease worldwide, with a major socio-economic burden and
to date without cure. Although ADPKD has been historically
considered as an “adult-onset” disease, nowadays it is recognized
that the adult presentation of the disease is only the tip of the
iceberg. ADPKD is ...