An association between cognitive performance in elderly people and variability in the codon 129 of the prion protein gene (PRNP) has been recently described. The authors analyzed this polymorphism in 278 sporadic AD patients and 268 cognitively normal control subjects. Analyses stratifying by APOE genotype, age, and gender failed to reveal any association between homozygosity for the 129 PRNP methionine or valine alleles and AD.
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http://dx.doi.org/10.1212/wnl.55.4.593 | DOI Listing |
Biochem Genet
January 2025
Key Laboratory of Parasite and Vector Biology of the Chinese Ministry of Health, Chinese Center for Disease Control and Prevention, WHO Collaborating Centre for Tropical Diseases, National Institute of Parasitic Diseases, Shanghai, 200025, People's Republic of China.
Drug resistance resulting from mutations in Plasmodium falciparum, that caused the failure of previously effective malaria drugs, has continued to threaten the global malaria elimination goal. This study describes the profiles of P. falciparum chloroquine resistance transporter (Pfcrt) and P.
View Article and Find Full Text PDFFront Cell Neurosci
January 2025
Department of Pathology, Case Western Reserve University, School of Medicine, Cleveland, OH, United States.
Creutzfeldt-Jakob disease (CJD) is a rare, fatal, rapidly progressive neurodegenerative disease resulting from an accumulation of misfolded prion proteins (PrP). CJD affects 1-2 new individuals per million each year, and the sporadic type accounts for 90% of those cases. Though the median age at onset and disease duration vary depending on the subtype of sporadic CJD (sCJD), the disease typically affects middle-aged to elderly individuals with a median survival of 4-6 months.
View Article and Find Full Text PDFJ Mol Graph Model
March 2025
Department of Chemistry, Faculty of Science and Technology, University of Nairobi, P.O. Box 30197-00100, Nairobi, Kenya.
The human prion protein gene (PRNP) consists of two common alleles that encode either methionine or valine residues at codon 129. Polymorphism at codon 129 of the prion protein (PRNP) gene is closely associated with genetic variations and susceptibility to specific variants of prion diseases. The presence of these different alleles, known as the PRNP codon 129 polymorphism, plays a significant role in disease susceptibility and progression.
View Article and Find Full Text PDFJ Neurol
December 2024
The UK National CJD Research and Surveillance Unit, Centre for Clinical Brain Sciences, Chancellor's Building, University of Edinburgh, Edinburgh, EH16 4TG, UK.
Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive and fatal prion disease with significant public health implications. Survival is heterogenous, posing challenges for prognostication and care planning. We developed a survival model using diagnostic data from comprehensive UK sCJD surveillance.
View Article and Find Full Text PDFPathology
November 2024
National CJD Research & Surveillance Unit, Centre for Clinical Brain Sciences, Chancellor's Building, University of Edinburgh, Edinburgh BioQuarter, Edinburgh, United Kingdom; Academic Department of Neuropathology, Centre for Clinical Brain Sciences, Chancellor's Building, University of Edinburgh, Edinburgh BioQuarter, Edinburgh, United Kingdom.
Human prion diseases are a rare group of transmissible neurodegenerative conditions which are classified according to their aetiology as sporadic, genetic or acquired forms. Creutzfeldt-Jakob disease (CJD) is the most common form of human prion disease, with the sporadic form accounting for ∼85% of all reported cases. While advances have been made in the development of clinical tools and biomarkers in the diagnosis of prion disease, allowing greater diagnostic certainty for surveillance purposes, definitive diagnosis requires neuropathological examination of the brain at postmortem.
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