D-016 | Establishing a biobank from patients fibroblasts to characterize tauopathy phenotypes in primary cultures

Cellular and Molecular Neurobiology
Author: Pedro Miarnau Alvarez | Email: pedromiarnau@gmail.com

Pedro Miarnau Alvarez^1°, Mariana Holubiec^1°2°, Gonzalo Corrado^1°2°,  Franco Dolcetti^1°, Gabriel Mizraji^3°, Elena Avale^4°, Blas Couto^5°,  Tomas Falzone^1°2°

^1° Instituto de Biología Celular y Neurociencia, Facultad de Medicina (IBCN-UBA-CONICET).
^2° Instituto de Investigación en Biomedicina de Buenos Aires – Instituto Partner de la Sociedad Max Planck (IBioBA-MPSP-CONICET).
^3° Unidad de Movimientos Anormales, Instituto de Neurociencias Fundación Favaloro.
^4° Instituto de Genética y Biología Molecular (INGEBI-CONICET)
^5° Instituto de Neurociencia Cognitiva y Traslacional (INCyT, INECO-Favaloro-CONICET)

Tauopathies are characterized by the abnormal accumulation and phosphorylation of tau protein in the brain, leading to severe disability and death, with no effective treatments or clear understanding of its underlying molecular mechanisms.
Our objective is the generation of a research ready fibroblast biobank from patients with diagnosis of probable primary tauopathies, to build a valuable resource for research and access to in-vitro patient’s models.
Punch biopsies from 20 patients at different stages of tauopathies have been collected after prior signing an informed consent. Fibroblasts appeared within a week after punch dissection and were expanded for approximately 50 days and finally frozen. Fibroblasts identity was confirmed by morphology and vimentin staining. Control and patient’s fibroblasts were characterized using phalloidin (actin) and antibodies against tubulin, tau and phosphorylated tau (PHF1). Mitochondrial network complexity was analyzed by live imaging using mitotracker to detect mitochondrial morphology and mobility. Further mitochondrial analysis included their interaction with lysosomes and hydrogen peroxide production.
This biobank will enable the development of specific in-vitro models to study phenotypic changes, establish predictive tools, and explore new therapies. This work will offer new diagnostic approaches and tools to study neurodegenerative diseases as well as a platform for drug treatment.