4th International Conference on Neurology and Brain Disorders

September 09-11, 2021

September 09 -11, 2021 | Virtual Event
INBC 2021

Glòria Garrabou

Speaker at Neurology and Brain Disorders 2021 - Glòria Garrabou
Title : Molecular characterization of fibroblasts’ models of neurologic and neuromuscular diseases


Introduction: Both neurologic and neuromuscular diseases as Parkinson disease (PD) and sporadic inclusion body myositis (sIBM) usually affect patients at elderly stages of life and share common molecular etiology. Inflammation, proteostasis deregulation, degenerative autophagic changes, oxidative stress, metabolic and bioenergetic dysfunction have been reported, among others, in both kind of disorders. Unfortunately, most of these diseases lack either diagnostic/prognostic biomarkers and effective treatments, mainly due to the lack of validated disease models.  We aim to validate fibroblasts as a disease model for both kind of disorders to set the path for further advances. 

Methodology: We examined PD and IBM disease hallmarks in fibroblasts of affected patients using OMICs and functional approaches. In OMICs approach, we analyzed the transcriptome and metabolic profile in fibroblasts from 6-8 PD patients, 14 sIBM subjects and 12 paired controls, through mRNA seq and UHPLC (Ultra High-Performance Liquid Chromatography). In the functional approach, we assessed inflammatory, degenerative, oxidative stress, metabolic and bioenergetic changes in patients’ fibroblasts. Results were analyzed through non-parametric statistic tests. 

Results: In the OMICs approach, 343 and 778 deregulated expressed genes were found in PD and sIBM patients’ fibroblasts, in pathways related to cell adhesion, cell growth, amino acid and folate metabolism (in PD), or RNA processing, cell communication and amino acid metabolism (in sIBM). UHPLC showed altered amino acid and organic acid levels related to mitochondrial defects and Krebs cycle in both kind of fibroblasts.  In the functional approach, PD and sIBM fibroblasts showed different but both dysfunctional profiles characterized by increased secretion of cytokines, defective autophagy, increased oxidative stress and deregulated metabolic and bioenergetic status that may underscore cell feat.  

Conclusion: Both OMICs and functional approaches recapitulate PD and sIBM hallmarks in fibroblasts, thus validating its usefulness as a disease model to explore molecular targets and assay therapeutic strategies that may eventually be exported to other neurologic and neuromuscular diseases.  Our findings indeed support the view of PD and sIBM as ‘systemic diseases’ affecting also peripheral tissues such as the skin.



Glòria Garrabou had completed Grade in Biological Sciences, specialization in Molecular, Cell Biology and Genetics, at the UAB, 2001 , Post grade in Genomics, Proteomics and Bioinformatics at the UB, 2002 and Master in Genetics at the UB, 2003 PhD (Cum Laude and Extraordinary Doctoral Thesis award) at the UB 2008 , Numerous courses in genetics (SEG/CNAG), respirometry/fluorometry (Oroboros, Austria), microscopy (CSIC), statistics (UB), mitochondrial diseases (UAM), writing competitive proposals (ERC calls; IDIBAPS/CIBERER), medical English (UB), teaching skills (UB), etc She is an Accredited researcher R3A IDIBAPS contracted by the CIBER of Rare Diseases (CIBERER) at the Muscle Research and Mitochondrial function Laboratory, IDIBAPS. Specialization in the study of mitochondrial and bioenergetic implication in: toxicity, obstetric complications, cardiomyopathy, neurodegeneration and neuromuscular disorders. Coordinator of the Lab in collaboration with the clinical chiefs Member of a Consolidated Group from the Generalitat of Catalunya (SGR), the MetNet and the Cardionet societies Participation in the Research Team of 36 competitive projects and 7 projects as Principal investigator: 2 FIPSEs in mitotoxicity of HIV and medication; 1 FIS and 1 CONACyT in neurodegeneration and 1 FIS and 2 ACCIs in neuromuscular and mitochondrial diseases (MNGIE, SKS and sIBM). Funding of human and material resources, with meritorious results.