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000274007 037__ $$aDZNE-2024-01435
000274007 041__ $$aEnglish
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000274007 1001_ $$aRasheed, Urwah$$b0
000274007 245__ $$aGenetic assessment of apolipoprotein E polymorphism and PRNP genotypes in rapidly progressive dementias in Pakistan.
000274007 260__ $$aLondon [u.a.]$$bTaylor & Francis$$c2024
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000274007 520__ $$aRapidly progressive dementias (RPDs) are a type of fatal dementias that cause rapid progression of neuronal dysfunction. This study aimed to assess the prevalence of APOE genotypes (ε2, ε3, ε4) and PRNP mutations (E200K, M129V) in the general population of Pakistan because of their association with RPDs, including Rapidly Progressive Alzheimer's Disease (rpAD) and Creutzfeldt-Jakob Disease (CJD). Blood samples (n = 100) were collected from healthy Pakistani population and the stated mutations were assessed using polymerase chain reaction. In the analysis of the APOE genotype, ε3/ε3 genotype was the most common (95%), followed by ε3/ε4 (5%) and ε2 allele was completely absent. A low frequency of ε4 allele and the absence of a protective ε2 allele is associated with an increased risk of rpAD. In the case of PRNP mutations, the most common genotype was M129-Ε200 (71%) and V129-Ε200 (29%). E200K mutation was completely absent from the given population. It is noteworthy that the MM homozygous genotype was present in 71 samples, VV genotype was present in 29. Homozygosity on codon 129, as observed in most of our samples, has been associated with more efficient production of PrPSc and disease pathology. This study provides preliminary data indicating that rpAD and CJD pose a significant threat to the Pakistani population.
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000274007 650_7 $$2Other$$aAlzheimer’s disease
000274007 650_7 $$2Other$$aCreutzfeldt-Jakob disease
000274007 650_7 $$2Other$$aincidence
000274007 650_7 $$2Other$$arapidly progressive Alzheimer’s disease
000274007 650_7 $$2Other$$arapidly progressive dementia
000274007 650_7 $$2NLM Chemicals$$aPrion Proteins
000274007 650_7 $$2NLM Chemicals$$aPRNP protein, human
000274007 650_7 $$2NLM Chemicals$$aApolipoproteins E
000274007 650_2 $$2MeSH$$aHumans
000274007 650_2 $$2MeSH$$aPakistan
000274007 650_2 $$2MeSH$$aPrion Proteins: genetics
000274007 650_2 $$2MeSH$$aGenotype
000274007 650_2 $$2MeSH$$aApolipoproteins E: genetics
000274007 650_2 $$2MeSH$$aFemale
000274007 650_2 $$2MeSH$$aMale
000274007 650_2 $$2MeSH$$aPolymorphism, Genetic: genetics
000274007 650_2 $$2MeSH$$aCreutzfeldt-Jakob Syndrome: genetics
000274007 650_2 $$2MeSH$$aDementia: genetics
000274007 650_2 $$2MeSH$$aMutation: genetics
000274007 650_2 $$2MeSH$$aAlleles
000274007 650_2 $$2MeSH$$aGene Frequency: genetics
000274007 650_2 $$2MeSH$$aMiddle Aged
000274007 650_2 $$2MeSH$$aAlzheimer Disease: genetics
000274007 650_2 $$2MeSH$$aAged
000274007 7001_ $$00009-0006-4684-8455$$aKhalid, Minahil$$b1
000274007 7001_ $$0P:(DE-2719)9001208$$aNoor, Aneeqa$$b2
000274007 7001_ $$00000-0002-9740-0371$$aSaeed, Umar$$b3
000274007 7001_ $$00000-0003-1599-651X$$aUppal, Rizwan$$b4
000274007 7001_ $$0P:(DE-2719)9000358$$aZafar, Saima$$b5$$eLast author
000274007 773__ $$0PERI:(DE-600)2267671-5$$a10.1080/19336896.2024.2439598$$gVol. 18, no. 1, p. 1 - 7$$n1$$p1 - 7$$tPrion$$v18$$x1933-6896$$y2024
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