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Kidney Physiopathology

Our main scientific interest is to understand, from a multidisciplinary and translational approach, the molecular and cellular processes leading to renal dysfunction in several kidney pathologies. Specifically, our research lines are

  • to study the pathophysiology of inherited rare renal tubulopathies
  • to understand the mechanisms of kidney injury and regeneration
  • to study the development of clear cell renal cell carcinoma (ccRCC)
  • the study the impact of androgens on those processes.

We are experts on the following areas:

  • the generation of cellular disease models carrying specific gene alterations,
  • genetically modified animal models and gene therapies,
  • life-imaging high-resolution microscopy
  • working with patients’ samples for translational research.

To sum up, our research main objective is to combine –omic data from cellular and animal models with patients’ data to identify novel biomarkers and possible treatments for several renal diseases.

Team

Carmen Larramendi Hernández

Carmen Larramendi Hernández

Research technician
Kidney Physiopathology
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Eva María Pastor Arroyo

Eva María Pastor Arroyo

Research technician
Kidney Physiopathology
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Julieta Torchia

Julieta Torchia

Predoctoral researcher
Kidney Physiopathology
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Laura Nasarre De Letosa Escalona

Laura Nasarre De Letosa Escalona

Research technician
Kidney Physiopathology
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Mercedes López González

Mercedes López González

Main researcher
Kidney Physiopathology
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Saskia Natali Agámez Luengas

Saskia Natali Agámez Luengas

Research technician
Kidney Physiopathology
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Carmen Larramendi Hernández

Carmen Larramendi Hernández

Research technician
Kidney Physiopathology
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Eva María Pastor Arroyo

Eva María Pastor Arroyo

Research technician
Kidney Physiopathology
Read more
Julieta Torchia

Julieta Torchia

Predoctoral researcher
Kidney Physiopathology
Read more
Laura Nasarre De Letosa Escalona

Laura Nasarre De Letosa Escalona

Research technician
Kidney Physiopathology
Read more
Mercedes López González

Mercedes López González

Main researcher
Kidney Physiopathology
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Saskia Natali Agámez Luengas

Saskia Natali Agámez Luengas

Research technician
Kidney Physiopathology
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Research lines

Rare inhirited renal diseases

Our group is focused in research in primary or inherited tubular renal diseases, such as Dent’s Disease, Bartter syndrome, Tubular Acidosis, Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis, among others. Currently we are collaborating  with other groups in Spain, within a research project named Renaltube the main purpose of which is to build a database while facilitating access to genotyping in order to improve the clinical and molecular knowledge of primary tubulopathies. Renaltube has a web-based approach with multilateral collaboration scheme that enhances the recruitment of data and promotes the understanding of underlying mechanisms of rare inherited diseases, defines more accurate diagnostic and follow-up criteria, develops new molecular techniques and will improve the overall care of the patients. Currently we are offering the analysis of 22 genes corresponding to 23 primary tubulopathies. After two years of activity Renaltube has collected data from 222 patients, the mayority from Spain and Latin America (85.3%). The most common tubulopathies are distal renal tubular acidosis (22.5%), and classical Bartter syndrome (19.3%) followed by familial hypomagesemia with hipercalciuria and nephrocalcinosis (15.7%), and Gitelman syndrome (15%).

IP: Gema Ariceta Iraola, Anna Meseguer Navarro

Androgen activity in renal pathophysiology: Identification of androgen-regulated kidney-specific genes and functional characterization of them, in processes of inflammation, oxidative stress and fibrosis underlying chronic kidney disease, hypertension and metabolic syndrome.

Among the genes identified in our laboratory that are kidney-specific and regulated by androgens at the transcriptional level we are particularly focused on the one that codes for the kidney androgen-regulated protein (KAP). Besides characterization of  the functional promoter elements that enable KAP expression in proximal tubule epithelial cells, we have generated a transgenic (Tg) mouse model that overexpresses KAP in proximal tubule cells under the presence of androgens, in order to mimick the endogenous KAP expression pattern. KAP Tg mice show altered lipid metabolism, glycosuria, proteinuria and hypertension, as well as focal segmental glomerulosclerosis mediated by increased oxidative stress. We are currently working in this Tg model and also preparing conditional knock-out mice to further caharacterize the role of KAP in renal pathophysiology. Moreover, we are also studying the role of KAP in the metabolic syndrome. Besides KAP, we are studying the role of KAP-interacting immunophilins  in inflammation and kidney fibrosis.

IP: Anna Meseguer Navarro

Projects

RED NACIONAL DE LABORATORIOS DE FUNCION RENAL

IP: Francesc Moreso Mateos
Collaborators: Gema Ariceta Iraola, Joan López Hellin
Funding agency: Instituto de Salud Carlos III
Funding: 42900
Reference: PMP22/00119
Duration: 01/01/2023 - 30/06/2026

Fucosylation in Clear Cell Renal Cell Carcinoma. STATing novel biomarkers and therapeutic strategies

IP: Fucosylation in Clear Cell Renal Cell Carcinoma. STATing novel biomarkers and therapeutic strategies
Collaborators: Gerard Cantero Recasens, Miriam Izquierdo Sans
Funding agency: Asociación Española Contra el Cáncer
Funding: 150000
Reference: INVES234762CANT
Duration: 15/11/2023 - 14/11/2026

Biomarcadores, dianas y soluciones terapéuticas para mejorar el cuidado de pacientes afectados de Hipomagnesemia Familiar con Hipercalciuria y Nefrocalcinosis (HFHNC).

IP: Gema Ariceta Iraola
Collaborators: Hector Rios Duro, Biomarcadores, dianas y soluciones terapéuticas para mejorar el cuidado de pacientes afectados de Hipomagnesemia Familiar con H, Julieta Torchia Pruzzo, Gloria Mª Fraga Rodriguez
Funding agency: Instituto de Salud Carlos III
Funding: 202070
Reference: PI22/01946
Duration: 01/01/2023 - 30/06/2027

Papel del ClC-5 en la fibrosis renal. Identificación de posibles biomarcadores y dianas terapéuticas para la progresión de la enfermedad de Dent 1

IP: Gerard Cantero Recasens
Collaborators: Anna Meseguer Navarro, Andrea Casal Pardo, Hector Rios Duro, Papel del ClC-5 en la fibrosis renal. Identificación de posibles biomarcadores y dianas terapéuticas para la progresión de la e, Julieta Torchia Pruzzo, Gloria Mª Fraga Rodriguez
Funding agency: Instituto de Salud Carlos III
Funding: 123420
Reference: PI22/00741
Duration: 01/01/2023 - 30/06/2027

Blog

News

The team has discovered that a protein called SEC22B acts as a phenotype modifier and could be used as a potential urinary marker of the disease.

Funding has been obtained for 43 projects under the calls for Health R&D&I Projects, Health Technology Development, and Independent Clinical Research

The aim of the project is to establish kidney organoids derived from patients with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis, which will be essential tools for studying the disease and testing new treatments.