Herein we describe a comparative clinical and genetic study of Lrrk2-associated parkinsonism in Northern Spain. In our sample from the Basque region, Lrrk2 R1441G and G2019S account for 15 out of 50 kindreds (30%) with familial Parkinson's disease. We observe common founder haplotypes for both R1441G and G2019S carriers. Our findings highlight the importance of Lrrk2 parkinsonism in this population and may have important consequences for its extended Diaspora in North, Central and South Americas.
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http://dx.doi.org/10.1016/j.parkreldis.2007.04.003 | DOI Listing |
Front Neurosci
December 2024
German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Background: Extracellular vesicles are easily accessible in various biofluids and allow the assessment of disease-related changes in the proteome. This has made them a promising target for biomarker studies, especially in the field of neurodegeneration where access to diseased tissue is very limited. Genetic variants in the LRRK2 gene have been linked to both familial and sporadic forms of Parkinson's disease.
View Article and Find Full Text PDFBrain
December 2024
Lab of Parkinson's & Other Movement Disorders, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS); Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona; Institut de Neurociències, Universitat de Barcelona; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED) CB06/05/0018-ISCIII; ES 08036 Barcelona, Spain.
Leucine-rich repeat kinase 2 (LRRK2) inhibition is a promising disease-modifying therapy for LRRK2-associated Parkinson's disease (L2PD) and idiopathic PD (iPD). However, pharmaco-dynamic readouts and progression biomarkers for clinical trials aiming for disease modification are insufficient since no endogenous marker reflecting enhanced kinase activity of the most common LRRK2 G2019S mutation has been reported yet in L2PD patients. Employing phospho-/proteomic analyses we assessed the impact that LRRK2 activating mutations had in peripheral blood mononuclear cells (PBMCs) from a LRRK2 clinical cohort from Spain (n=174).
View Article and Find Full Text PDFBiochem Biophys Rep
December 2024
Department of Mathematics & Physics, North South University, Dhaka, Bangladesh.
Parkinson's Disease (PD) is a continuingly deteriorating neurological ailment affecting over 8.5 million patients globally as of 2019, and the numbers are expected to keep rising. To aid in identifying therapeutic targets, molecular dynamics simulations are convenient and cost-effective methods for enriching our knowledge of the molecular pathophysiology of diseases.
View Article and Find Full Text PDFEnviron Int
December 2024
Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, L-4367 Belvaux, Luxembourg. Electronic address:
Food Funct
November 2024
Department of Pharmacology, Pediatrics, and Radiology, School of Medicine, Universidad de Sevilla, Av Sanchez Pizjuan s/n, 41009 Seville, Spain.
Parkinson's disease (PD) is the second most common neurodegenerative disease, with genetic factors like mutations in the LRRK2 gene being a key cause of late-onset autosomal dominant parkinsonism. Nutritional strategies, such as using bioactive peptides with anti-inflammatory properties from sources like hemp protein, are gaining interest as an alternative to pharmacological therapies. In this study, we used an LRRK2-associated PD mouse model to test the efficacy of a hempseed protein hydrolysate (HPH60A + 15F) with antioxidant and anti-inflammatory properties.
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