This is a project financed thanks to the impulse of the child’s mother, Eva Giménez, who has managed to involve actors and professional cyclists.
And although the mouse is an avatar of Nacho, that is, it has been created with the same mutation, in the end it will help other children who suffer from the same pathology. It is a rare disease that some 70 families in Spain suffer from and some 700 worldwide, biologist Ana Perdomo, a member of the research group at the Nuestra Señora de La Candelaria University Hospital Tenerife.
Ana Perdomo is a post-doctoral fellow at the Call “Margarita Salas”. And, precisely this Wednesday, he will divulge the history of this research in the talk “Avatar mice: the sense of studying the rare”, included within the “Pint of science” initiative in La Laguna.
25 years ago
But to tell this story you have to go back 25 years. The researcher at the Félix Claverie hospital in Tenerife and the pediatric nephrologist Víctor García, who were studying the clinical and genetics of rare kidney diseases, started a project to carry out free genetic tests on children with these pathologies.
This was the germ of Renaltube groupin which the hospitals of Oviedo, Cruces in Bilbao and Vall d’Hebrón in Barcelona also participate.
It was precisely in the Barcelona hospital where about ten years ago he was admitted
Nacho “practically dead” when he was barely 2 years old. It was found that the boy’s kidneys were failing.
One of the nephrologists who attended him was in the “Renaltube” project and sent a blood sample from the child to the La Candelaria Hospital in Tenerife, where he was diagnosed with Dent’s disease.
Upon reading the report, Nacho’s mother, Eva Giménez, was disconcerted and decided to contact Félix Claverie, who explained that Dent’s disease has no cure and the only thing that can be done is alleviate the symptoms and, above all, investigate .
Initiatives to raise funds
Eva had met the actor Santi Millán in Vall d’Hebrón and when she commented on the situation, he suggested that she do a bicycle race through the desert and other initiatives to raise funds for research, and created the association “Asdent”.
And Ana Perdomo also offers an enlightening detail: Eva Jiménez has multiple sclerosis, which has not prevented her from participating in sports initiatives and involving professional cyclists such as Perico Delgado to raise money to investigate Dent’s disease, which she also recounts in four documentaries. In fact, the biologist from Gran Canaria was hired for more than 6 years thanks to the money raised by Nacho’s mother.
Dent’s disease mainly affects the kidney and is characterized by a dysfunction of the proximal tubule, which reabsorbs 70 percent of the glomerular filtrate, which includes low molecular weight proteins and ions, and which in this pathology prevents this recovery.
create the avatar
This causes Nacho to lose protein, calcium, phosphorus and many ions, which causes “a terrible imbalance” because the blood is not receiving that contribution and generates an overload in the kidney that, usually, can lead to kidney failure in adolescence. .
Among other symptoms, Nacho has polyuria, which leads him to urinate up to 6 liters a day, and the more than 30 pills he must take daily add more symptoms to those already typical of Dent’s disease.
So one day Félix Claverie proposed developing a mouse with Nacho’s specific mutation to try to test drugs to alleviate these symptoms, explains Ana Perdomo. She points out that the creation of this animal has cost about 30,000 euros financed thanks to the initiatives of Eva Jiménez.
An already approved drug
And with this mouse avatar found in the Animal Facility of the University of La Laguna the group of researchers is studying a selection of drugs, of which they have found one that specifically reduces low molecular weight proteinuria.
This drug has already been approved in Europe and the United States for urea cycle diseases. This implies that time will be saved in its possible application by “skipping” several steps in the authorization process for a drug, which can take a decade if you start from scratch.
Will help other patients
The group is also testing other drugs to determine the safest mixture possible and not put more pressure on the kidney. It must be taken into account that the physiology of a mouse is not the same as that of a person, and the next step will be to test this “cocktail” in Dent patients who do not have advanced renal failure.
For this reason it cannot be used immediately in Nacho. His medication is being readjusted to try to stabilize him..
What is relevant, points out Ana Perdomo, is that this mouse avatar of Nacho will help other patients with the same rare disease and who, in some cases, present so few symptoms that they do not attract attention. However, by disclosing it, you can help clinicians recognize what low molecular weight proteinuria may entail.
