Background: An old founder mutation (G2019S) was found with high frequency in the North African Arabs (30%) and Ashkenazi Jews (18% ).
Objective: Demonstrate if mutations in the LRRK2 gene are a significant cause of Parkinson's disease (PD) in the French-Canadian founder population.
Methods: Cases were recruited through a designated movement disorder clinic in Quebec City. Every index case had to meet the Ward and Gibb criteria for PD. Controls consisted of a non-disease group of similar age and ethnicity as the cases. Exons 31 and 41 of LRRK2 were amplified by PCR with intronic primers in all 125 PD cases and directly sequenced on an ABI 3700 sequencer. Six single nucleotide polymorphism were typed in 125 PD cases and 95 normal controls. Associations between unrelated cases and matched controls were analyzed. Single marker analysis and haplotype association tests were performed.
Results: Sequencing analysis did not reveal any reported or novel mutations in exons 31 and 41 of LRRK2. The G2019S mutation as well as mutations affecting amino acid 1441 were absent in the 125 patients. The case-control association study performed to detect the presence of a common variant in LRRK2 did not provide any positive signal. Single-marker and haplotype analyses systematically gave non-significant P values.
Conclusions: We performed a case-control association study in 125 French-Canadian (FC) patients with PD and 95 FC controls and found that common variants in LRRK2 are unlikely to be a significant cause of late-onset PD in this founder population.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1017/s0317167100006776 | DOI Listing |
Biosens Bioelectron
January 2025
Department of Physics, Virginia Commonwealth University, Richmond, VA, 23284, USA; Institute for Sustainable Energy and Environment, Virginia Commonwealth University, Richmond, VA, 23284, USA. Electronic address:
Wearable devices designed for the somatosensory system aim to provide event-cue feedback electronics and therapeutic stimulation to the peripheral nervous system. This prompts a neurological response that is relayed back to the central nervous system. Unlike virtual reality tools, these devices precisely target peripheral mechanoreceptors by administering specific stimuli.
View Article and Find Full Text PDFSci Adv
January 2025
Department of Cell Biology, Blavatnik Institute, Harvard Medical School, Boston, MA 02115, USA.
Lysosomal storage diseases (LSDs) comprise ~50 monogenic disorders marked by the buildup of cellular material in lysosomes, yet systematic global molecular phenotyping of proteins and lipids is lacking. We present a nanoflow-based multiomic single-shot technology (nMOST) workflow that quantifies HeLa cell proteomes and lipidomes from over two dozen LSD mutants. Global cross-correlation analysis between lipids and proteins identified autophagy defects, notably the accumulation of ferritinophagy substrates and receptors, especially in and mutants, where lysosomes accumulate cholesterol.
View Article and Find Full Text PDFDatabase (Oxford)
January 2025
Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, One Cyclotron Rd., Berkeley, CA 94720, United States.
Ontologies and knowledge graphs (KGs) are general-purpose computable representations of some domain, such as human anatomy, and are frequently a crucial part of modern information systems. Most of these structures change over time, incorporating new knowledge or information that was previously missing. Managing these changes is a challenge, both in terms of communicating changes to users and providing mechanisms to make it easier for multiple stakeholders to contribute.
View Article and Find Full Text PDFBraz J Biol
January 2025
Universidade Federal da Paraíba, João Pessoa, PB, Brasil.
Parkinson's disease (PD) is characterized by progressive loss of dopaminergic neurons in the substantia nigra pars compacta, which leads to a reduction in the production of dopamine. Medication with levodopa becomes less effective as the disease progresses. Despite the excellent results observed in clinical practice with the medicinal use of Cannabis in the treatment of PD, the level of scientific evidence is still limited due to the small number of studies published in this field.
View Article and Find Full Text PDFArch Physiol Biochem
December 2024
Laboratory of Biochemistry, Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.
To examine the effects of self-paced combined high-intensity interval training and resistance training (HIIT-RT) on oxidative stress, inflammation lipid profile and body composition in people with multiple sclerosis (PwMS). Twenty-three PwMS were randomly assigned to either a control group (CG, n = 12) or a training group (TG, n = 11). The TG performed a 12-week self-paced HIIT-RT (3 times/week).
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!