Molecular biology of prion protein and its first homologous protein

Sakaguchi, Suehiro

doi:10.2152/jmi.54.211

Cited by 10 publications

(8 citation statements)

References 56 publications

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“…Prion diseases, also known as transmissible spongiform encephalopathies (TSE), are a class of infectious, progressive and fatal neurodegenerative disorders associated with the loss of cognitive skills and neuronal dysfunction in animals and humans. 1 , 2 Accumulation of misfolded proteinaceous particles (prions) is regarded a hallmark feature that is necessary for progression to TSEs. 3 However, it is still not entirely understood how these aggregates are formed and when or why the conversion of cellular, non-pathogenic prion protein (PrP C ) into pathogenic scrapie PrP (PrP Sc ) occurs.…”

Section: Introductionmentioning

confidence: 99%

Semisynthetic prion protein (PrP) variants carrying glycan mimics at position 181 and 197 do not form fibrils

et al. 2017

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Section: Introductionmentioning

confidence: 99%

Semisynthetic prion protein (PrP) variants carrying glycan mimics at position 181 and 197 do not form fibrils

et al. 2017

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“…Previous data suggest that polymorphism at position 101 in the regulatory region of PRNP gene may be a risk factor for sCJD among codon 129 heterozygotes (Bratosiewicz-Wasik et al, 2007). More recently it has been shown that polymorphism in the first identified PrP-like protein, termed PrPLP/Doppel (Dpl) may increase susceptibility to prion diseases (Sakaguchi, 2007).…”

Section: Prnp Polymorphism Data In European Population Have Been Repomentioning

confidence: 99%

Polymorphisms of the Prion Protein Gene (PRNP) in a Serbian Population

Dimitrijević

Čadeź

Keckarević-Marković

et al. 2010

International Journal of Neuroscience

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Prion diseases are a group of etiologically heterogeneous neurodegenerative disorders. We have analyzed the coding region of PRNP gene in 121 healthy citizens of Serbia to determine whether the frequencies of M129V, E219K, and octapeptide repeat number polymorphism. For Serbian population, polymorphism of PRNP gene at codon 129 does not differ from healthy European populations. Also codon 219 is monomorphic for the Glu allele both in Serbian population and other European populations. On the contrary, in Serbian population we did not detect any deletions or insertions in octapeptide repeat region, whereas deletions were detected in other European populations.

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“…4 Codons 127 and 219 of PRNP also harbour amino-acid (AA) polymorphisms that confer resistance to Kuru 5 or sCJD. 6 Recently, other candidate genes have been identified as risk factors for sCJD, such as an SNP upstream of PRNP exon 1 (SNP 1368), 7 c.592C4T(p.T174M) in prion-like doppel gene (PRND), 8 APOE e4 allele, 9 polymorphisms at CALHM1 gene, 10 and BACE1 gene. 11 Identification of the potential genetic risk factors for sCJD seems to be one of the important pathways for understanding of the pathogenic mechanisms and human susceptibility to the disease.…”

Section: Introductionmentioning

confidence: 99%

Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt–Jakob disease

Zhang

et al. 2014

Eur J Hum Genet

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Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause a variety of chronic diseases in central nervous system (CNS). However, the role of mtDNA mutations in sporadic Creutzfeldt-Jakob disease (sCJD) has still been unknown. In this study, we comparatively analyzed complete mtDNA sequences of 31 Chinese sCJD patients and 32 controls. Using MITOMASTER and PhyloTree, we characterized 520 variants in sCJD patients and 507 variants in control by haplogroup and allele frequencies. We classified the mtDNAs into 40 sub-haplogroups of 5 haplogroups, most of them being Asian-specific haplogroups. Haplogroup U, an European-specific haplogroups mtDNA, was found only in sCJD. The analysis to control region (CR) revealed a 31% increase in the frequency of mtDNA CR mutations in sCJD versus controls. In functional elements of the mtDNA CR, six CR mutations were in conserved sequence blocks I (CSBI) in sCJD, while only one in control (Po0.05). More mutants in transfer ribonucleic acid-Leu (tRNA-Leu) were detected in sCJD. The frequencies of two synonymous amino-acid changes, m.11467A4G, p.( ¼ ) in NADH dehydrogenase subunit 4 (ND4) and m.12372G4A, p.( ¼ ) in NADH dehydrogenase subunit 5 (ND5), in sCJD patients were higher than that of controls. Our study, for the first time, screened the variations of mtDNA of Chinese sCJD patients and identified some potential disease-related mutations for further investigations.

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Molecular biology of prion protein and its first homologous protein

Cited by 10 publications

References 56 publications

Semisynthetic prion protein (PrP) variants carrying glycan mimics at position 181 and 197 do not form fibrils

Semisynthetic prion protein (PrP) variants carrying glycan mimics at position 181 and 197 do not form fibrils

Polymorphisms of the Prion Protein Gene (PRNP) in a Serbian Population

Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt–Jakob disease

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