About
Synucleinopathies are characterised by abnormal alpha-synuclein oligomerization and aggregation. Parkinson's disease (PD) and dementia with Lewy bodies (DLB) are Lewy body diseases where aggregated alpha-synuclein deposits as Lewy bodies. Whereas PD is the most common movement disorder, DLB is the second most common cause of dementia after Alzheimer's disease (AD). DLB also shows an important neuropathological overlap with AD difficulting its clinical diagnosis. Additionally, PD, DLB and AD are characterised by a high grade of heterogeneity, so that PD and DLB are only umbrella terms for groups of diseases showing similar pathological and clinical features. However, they develop as a result of different primary molecular changes during the very first stages of the disease.
The research group’s main goal is to identify these different mechanisms to define different disease subgroups and, with the aim of disentangling this heterogeneity, its main objectives are:
- Molecular characterisation of dementia with Lewy bodies with special focus on genetic variants, differential expression of alternative transcript variants and miRNAs.
- Identification of diagnostic biomarkers for dementia with Lewy bodies in different peripheral sources including blood, plasma, platelets and saliva.
- Establishment of cell and possibly also animal models suitable for testing of results.
- Development of diagnostic panels for the clinical diagnosis of dementias and Parkinson's disease.
The team’s research has a strong translational character, and so, their final aim is to translate research results from post-mortem brain tissue to peripheral tissues. So far, they have identified four biomarkers and have patented all of them. Two are specific for DLB subgroups, whereas the other two may serve as an early diagnostic marker of DLB.
Since neuropathological changes start up to 20 years before clinical symptoms of either PD or DLB become evident, they are currently extending their research to prodromic phases of Lewy body disorders.
Keywords: Lewy body diseases, dementia with Lewy bodies, Parkinson's disease, Alzheimer's disease, alpha-synuclein, alternative transcripts, platelets, blood biomarkers, saliva biomarkers.
Group leader
- Katrin Beyer
Katrin Beyer
Since 1994, Dr Beyer has worked extensively in the field of neurodegenerative dementias, with a particular focus on Alzheimer's disease (AD) and dementia with Lewy bodies (DLB). In her early research, she explored how various risk factors affect AD depending on the age of onset. Over time, Dr Beyer's primary research interest shifted to DLB due to its diagnostic overlap with AD, which causes frequent misdiagnoses and adverse treatment reactions, which led to a broader investigation into the genetic and transcriptomic aspects of synucleinopathies.
For over a decade, Dr Beyer has led the Genomics and Transcriptomics of Synucleinopathies (GTS) research group, investigating various aspects of Lewy body diseases at the genetic and molecular levels. The work includes identifying genetic variations, studying gene expression and miRNA changes, and analyzing biomarkers from peripheral sources like blood and saliva. Dr Beyer has developed patented DLB biomarkers, some of which are aimed at patient stratification and treatment monitoring. Collaborations with the European DLB consortium and the Global Parkinson's Genetics Program further enhance her research by providing access to diverse genetic samples and facilitating international cooperation in understanding the genetic underpinnings of DLB and Parkinson's disease.
Contact: kbeyer(ELIMINAR)@igtp.cat
ORCID: 0000-0001-8905-1514
Team
Medical neurologists
Pau Pastor Muñoz(ELIMINAR)
Dolores Vilas Rolan(ELIMINAR)
Daniela Samaniego Toro(ELIMINAR)
Alex Menendez Albarracín(ELIMINAR)
Post-doctoral fellow
Jorge Mena Lucía(ELIMINAR)
PhD students
David Adamuz Comino(ELIMINAR)
Laura Arnaldo Orts(ELIMINAR)
Research Technician
Abril Tuset Andreu(ELIMINAR)
Master's students
Kilian Fernández Aixalà
Santiago Alayón Suárez
Research lines
- Molecular characterisation of dementia with Lewy bodies and identification of molecular subtypes is based on the analysis of post-mortem brain material with an exhaustive neuropathaological characterization. Genetic characterization includes (1) the identification of genetic variations, the characterization of variable polynucleotide sequences, INDELs and microsatellites in promoter and intronic regions, (2) the analysis of gene expression involved in the pathogenesis of Lewy body diseases and of alternative splicing and (3) functional and integrated analyzes of promoter variants (polynucleotides and/or microsatellites) co-regulating transcriptional activity, intronic variants co-regulating alternative splicing and 3'UTR variants.
- Biomarker research. Identification and characterisation of peripheral biomarkers explores miRNA, mRNA and protein expression changes in different sources, including whole blood, plasma, platelets and saliva.
- Identification of platelet-specific changes in dementia with Lewy bodies based on previous findings and including (1) the identification and characterization of disease specific platelet activation pathways and (2) the study of disease related mitochondrial and apoptosis induction pathway changes in platelets.
- Establishment of cell models suitable for testing of results is based on a blood-brain-barrier cell model to test the effect of diseased platelets.
Active projects
The role of platelets as biomarker reservoirs for dementia with Lewy bodies
PI: Katrin Beyer
Funding agency: Ministerio de Salud
Agency code: PI21/00833
Duration: 01/01/2022 - 31/12/2025
Validación de biomarcadores líquidos y de imagen para el diagnóstico de la demencia con cuerpos de Lewy prodrómica
PI: Dr Pau Pastor; Co-PI: Katrin Beyer
Funding agency: Ministerio de Ciencia e Innovación
Agency code: PMP22/00100
Duration: 01/01/2023 - 30/06/2026
Blood miRNAs as diagnostic tool for dementia with Lewy bodies
PI: Katrin Beyer
Funding agency: FEDER - Agaur
Agency code: 2024 INNOV 0006
Duration: 01/01/2025 - 30/06/2026
Lewy-Dx: el primer test de diagnóstico en sangre para la demencia con cuerpos de Lewy
PI: Katrin Beyer
Funding agency: PERIS
Agency code: SLT036_24_000012
Duration: 01/01/2025 - 31/12/2025
Neuroimagen y marcadores periféricos de demencia con cuerpos de Lewy prodrómica (IMAPERDEMLEWY)
PI: Pau Pastor
Funding agency: Ministerio de Salud
Duration: 2022 - 2025
Platelets as therapeutic targets for dementia with Lewy bodies (LB-TREAT)
PI: Katrin Beyer
Funding agency: Spanish Ministry of Health
Agency code: PI24/00241
Duration: 01/01/2025 - 31/12/2027
Past projects
Blood miRNAs as diagnostic tool for dementia with Lewy bodies
PI: Katrin Beyer
Funding agency: Fondo Europeo de Desarrollo Regional (FEDER) - Agència de Gestió d'Ajuts Universitaris i de Recerca (AGAUR)
Agency code: 2021 PROD 00049
Duration: 2022 - 2024
Scientific publications
Highlighted publications
Beyer K, Domingo-Sàbat M, Santos C, Tolosa E, Ferrer I, Ariza A. The decrease of β-synuclein in cortical brain areas defines a molecular subgroup of dementia with Lewy bodies. Brain. 2010 Dec;133(Pt 12):3724-33. DOI: 10.1093/brain/awq275.
Urbizu A, Canet-Pons J, Munoz-Marmol AM, Aldecoa I, Lopez MT, Compta Y, Alvarez R, Ispierto L, Tolosa E, Ariza A, Beyer K. Cystatin C is differentially involved in multiple system atrophy phenotypes. Neuropathol Appl Neurobiol. 2015 Jun;41(4):507-19. DOI: 10.1111/nan.12134.
Gámez-Valero A, Prada-Dacasa P, Santos C, Adame-Castillo C, Campdelacreu J, Reñé R, Gascón-Bayarri J, Ispierto L, Álvarez R, Ariza A, Beyer K. GBA Mutations Are Associated With Earlier Onset and Male Sex in Dementia With Lewy Bodies. Mov Disord. 2016 Jul;31(7):1066-70. DOI: 10.1002/mds.26593.
Perez-Roca L, Adame-Castillo C, Campdelacreu J, Ispierto L, Vilas D, Rene R, Alvarez R, Gascon-Bayarri J, Serrano-Munoz MA, Ariza A, Beyer K. Glucocerebrosidase mRNA is Diminished in Brain of Lewy Body Diseases and Changes with Disease Progression in Blood. Aging Dis. 2018 Apr 1;9(2):208-219. DOI: 10.14336/AD.2017.0505.
Gámez-Valero A, Campdelacreu J, Vilas D, Ispierto L, Reñé R, Álvarez R, Armengol MP, Borràs FE, Beyer K. Exploratory study on microRNA profiles from plasma-derived extracellular vesicles in Alzheimer's disease and dementia with Lewy bodies. Transl Neurodegener. 2019 Oct 3;8:31. DOI: 10.1186/s40035-019-0169-5.
Additional information
Collaborative networks
- European DLB (e-DLB) consortium
The e-DLB consortium was created to facilitate and homogenise the identification of diagnostic and prognostic biomarkers in dementia with Lewy bodies. Its members come from 44 centers in 20 European countries and 10 centers in 7 countries outside Europe.
Mission: To conduct translational clinical research and clinic trials targeted at addressing the global critical public-health need of combating Dementia with Lewy Bodies (DLB) and with the aim of ultimately improving quality of life and other outcomes for people with, or at high risk of developing, DLB and their carers.
Vision: Their vision is to further develop the consortium/registry, provide a setting in which to increase the basic scientific understanding of and to develop ways to diagnose, prevent, slow or ameliorate the core symptoms of DLB and common comorbidities of DLB.
Currently, the group is actively collaborating with Dr Nedelska from Prague and Dr Aarsland from Stavanger (Norway). They have obtained samples from both sites.
- Global Parkinson's Genetics Program (GP2)
The Global Parkinson's Genetics Program (GP2) is a resource program of the Aligning Science Across Parkinson's (ASAP) initiative focused on improving our understanding of the genetic architecture of Parkinson's disease (PD) and making this knowledge globally relevant.
GP2 is made up of member organizations around the world that are coming together to create a global research community dedicated to rapidly addressing emerging research needs in PD. The work of GP2 is aimed at using genetics knowledge to accelerate the path to the development and deployment of therapeutic strategies for PD.
The group has contributed to GP2 by sending more than 350 DNA samples collected from PD patients. The data and results are openly shared and are available for individual processing. The next stage of sample preparation is ongoing, and samples will be shipped shortly.
Outreach
During 2023, the group has organized with the help of the IGTP-fund-rising organization, "Amics de Can Ruti", a public exposition in collaboration with a plastic artist who contributed her artwork representing the pathology associated with dementia with Lewy bodies and the disease. One of the Badalona Libraries hosted the exposition, and several presentations and lectures for the public and high school classes.
Others
Katrin Beyer received Expertscape's Recognition as an Expert in Lewy bodies (placement by PubMed-based algorithms in the top 1% of scholars writing about Lewy Bodies over the past 10 years) in September 2021.
News
IIS IGTP secures over €6.5 million through the Acción Estratégica en Salud 2024
The Instituto de Investigación Sanitaria IGTP has secured a total of €6,518,867 for various research projects and researcher contracts within the Acción Estratégica en Salud 2024 calls.
Two innovative projects from IGTP secure €300,000 in funding to advance the diagnosis and treatment of neurological diseases
IGTP has been awarded two grants in the proves de validació (validation testing) call for the 2024-2026 period. One focused on the diagnosis of dementia with Lewy bodies and the other on the treatment of a stroke.
Contact
(+34) 93 554 30 50 extn 6560
More links
Katrin Beyer at HUGTiP's webpage · Follow @KatrinBeyer2 on X · Donate via Amics de Can Ruti