he International Association of Relatives and Affected by Lipodystrophy (AELIP) has contributed 30,300 euros for the development of the project "Detection and characterization of autoantibodies against perillipine 1 in patients with generalized acquired lipodystrophy (Lawrence syndrome)", led by Pilar Nozal Aranda, researcher at the Consortium for Biomedical Research in Red M.P. de Enfermedades Raras (CIBERER) and La Paz Hospital in Madrid, and Santiago Rodríguez de Córdoba, from CIBERER and the Centro de Investigaciones Biológicas (CSIC).
In order to make this donation effective, an agreement has been signed between AELIP and the Consorcio de Investigación Biomédica en Red M.P. (CIBER), a state public consortium whose fundamental aim is the promotion and protection of health through the promotion of research, both basic and oriented to clinical and translational aspects in the field of different thematic areas of research, one of which is Rare Diseases (CIBERER).
This research project aims to analyse the presence of antibodies against perillipin 1 protein in a cohort of patients with acquired generalized lipodystrophy. Previous studies of the group have described for the first time the existence of these autoantibodies and their relationship with the lipodistrophic phenotype in patients.
One of the objectives of the project is to know the population frequency of this antibody, using a larger cohort of patients with this disease. On the other hand, the pathogenic mechanism of these antibodies will be analyzed in depth from the molecular point of view.
Additionally, it is intended to test blocking peptides to restore the harmful effect of these autoantibodies in a model of human preadipocytes in culture, which endows the project with a translational end.