SANTA CRUZ DE TENERIFE, 12th June. (EUROPA PRESS) –
The Investigation Unit at Nuestra Señora de Candelaria University Hospital, in collaboration with the Canary Islands Health Research Institute Foundation (FIISC), is examining the usage of two recently developed medications to address Dent’s disease type 1. Recent studies indicate that certain mutated proteins regain their normal functionality after the administration of these drugs to laboratory-cultivated cells.
This investigation, spearheaded by the researcher Glorián Mura as a part of her doctoral dissertation, under the guidance of Elena Ramos and Félix Claverie, has been honoured with the second prize for oral presentation at the National Congress of Paediatric Nephrology.
The cell cultures cultivated in the laboratory by Félix Claverie’s research team harbour mutations observed in patients afflicted by Dent’s disease type 1. These mutations lead to the loss of protein localisation within cells, akin to those in a healthy individual, impeding their proper functioning and resulting in renal failure.
Through the administration of experimental drugs to these cells, it has been corroborated that the mutated proteins restore their typical localisation and function. These findings were further validated in a KI mouse model (mice genetically engineered with relevant mutations) having Dent’s disease type 1 characteristics. The efficacy of both drugs in enhancing several facets of the renal disorder was demonstrated.
The hospital complex has been researching this condition for 25 years and has become a prominent figure nationally for its scientific contributions, having received various accolades on a national and international scale.
FIISC has long been a supporter of this research stream, with this particular outreach being amongst the beneficiaries in one of its recent research project funding rounds, receiving an allocation of approximately 20,000 euros.
DENT’S DISEASE
Dent’s disease type 1, recognised as a rare malady, impacts the kidneys and primarily afflicts males, usually from childhood. The primary symptoms encompass the urinary excretion of minute proteins, calcium, and phosphate, alongside substantial urine discharge and the formation of kidney stones, which can culminate in kidney malfunction necessitating dialysis or transplantation.
This condition arises from mutations in the CLCN5 gene, governing the production of the ClC-5 protein crucial for proper renal function. For the protein to operate effectively, it must fold correctly, adopt a specific three-dimensional structure, and localise within the cell membrane. Hitherto, no remedy has been devised to cure this ailment.
