Histidine at codon 154 of the prion protein gene is a risk factor for Nor98 scrapie in goats

Colussi, Silvia; Vaccari, Gabriele; Maurella, Cristiana; Bona, Cristina; Lorenzetti, Raniero; Troiano, Pasquale; Casalinuovo, Francesco; Sarno, A. Di; Maniaci, Maria Grazia; Zuccon, Fabio; Nonno, Romolo; Casalone, Cristina; Mazza, Maria; Ru, Giuseppe; Caramelli, Maria; Agrimi, Umberto; Acutis, Pier Luigi

doi:10.1099/vir.0.2008/004150-0

Cited by 59 publications

(59 citation statements)

References 27 publications

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“…A doença pode apresentar-se na forma clássica em ovinos e caprinos geneticamente susceptíveis (AVMA 2002, Goldmann & Baylis 2004, González et al 2009, OIE 2009) e na forma atípica, diagnosticada na Noruega, por Benestad et al (2003), denominada "Nor98", posteriormente observada em outras partes do mundo (Arsac et al 2007,Cosseddu 2007, Jeffrey & González 2007, Seuberlich et al 2007, Colussi et al 2008, Fediaevsky et al 2008, Loiacono et al 2009, Martinez 2010 (Fernandes et al 1978), mas a primeira notiϐicação oϐicial à Organização Mundial de Saúde Animal (OIE) foi de um surto, também no RS, ocorrido em 1985, (Pereira 1996). Posteriormente, entre 1995 e 2010, foram registrados surtos, no RS, Paraná (PR), Mato Grosso do Sul (MS), Mato Grosso (MT), Minas Gerais (MG) e São Paulo (SP) (OIE 2011a).…”

Section: Introductionunclassified

Scrapie e seu diagnóstico diferencial em ovinos no Mato Grosso do Sul

et al. 2012

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Pesq. Vet. Bras. 32(12):1230-1238, dezembro 2012 1230 RESUMO.-Scrapie é uma doença infecciosa, neurodegenerativa fatal, causada pelo príon scrapie (PrP sc ). Apresenta-se tanto na forma clássica em ovinos e caprinos geneticamente susceptíveis quanto na forma atípica em ovinos. A primeira notiϐicação oϐicial do Brasil à Organização Mundial de Saú-Scrapie e seu diagnóstico diferencial em ovinos no Mato Grosso do Sul

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Section: Introductionunclassified

Scrapie e seu diagnóstico diferencial em ovinos no Mato Grosso do Sul

et al. 2012

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“…Later studies conducted on archived tissue specimens revealed that atypical scrapie is not a new disease and has been existed at least from late 1980s in the UK herds [98,99]. In the following years, many atypical scrapie cases were reported in sheep and/or goats from [100][101][102][103], North America [104] and New Zealand [105], as well.…”

Section: Atypical Scrapie In Sheep and Goatsmentioning

confidence: 99%

“…Although there is very limited data about relationship atypical scrapie and PRNP genotypes in goats, it has been reported that the presence of histidine at codon 154 may associated with atypical cases in goats, as well [103,109].…”

Section: Atypical Scrapie In Sheep and Goatsmentioning

confidence: 99%

Genetic Resistance to Prion Diseases

Yaman¹,

Ün²

2017

Prion - An Overview

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Prions are abnormal isoforms of the host-encoded cellular prion proteins which are misfolding in its three-dimensional structure acquire pathogenicity. Prions cause transmissible spongiform encephalopathy (TSEs) in humans and some animal species including sheep, goats, catle, cat, deer and elk. TSEs, also called "prion diseases," cause irreversible neurodegeneration in the central nervous system and are always fatal. Cellular prion proteins are encoded by prion protein gene (PRNP) in mammals; moreover, it is known that the variations in the PRNP gene have inluence on the resistance and/or incubation period of the TSEs. It is well-documented that after exposure to the pathogenic prions, development of some TSEs depend on the host PRNP genotype, for example, scrapie in sheep, bovine spongiform encephalopathy (BSE) in catle, Creuzfeldt-Jakob disease (CJD) and kuru in humans, as well. In this chapter, genetic resistance to prion diseases will be reviewed.Keywords: TSE, prion disease, PRNP, genetic resistance IntroductionIt is known that conformational changes in prion protein cause Creuzfeldt-Jakob disease (CJD) in humans, scrapie disease in sheep and goats [1,2], bovine spongiform encephalopathy (BSE) in catle, feline spongiform encephalopathy in cat, and wasting disease in deer and elk.Polymorphisms inside the prion protein-coding gene (PRNP) in humans and also in some mammalian species have been appeared to impact disease susceptibility and pathologies [3]. In human population, kuru and CJD are profoundly related with polymorphism in codon 129. All CDJ afected individuals are known to be homozygous for methionine amino acid in codon 129 while at the same codon heterozygote individuals seem most resistant to kuru [4,5]. Also, it is known that there is a high correlation between the polymorphisms in codons © 2017 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.136, 154, and 171 of the PRNP gene and the level of susceptibility to scrapie in sheep [3,6,7]. In catle, numerous studies were carried out for discovering a relationship amongst BSE and polymorphisms in catle genome [8][9][10][11][12]. The studies about BSE-afected animals in Germany and USA represented the inluence of PRNP promoter polymorphisms on BSE susceptibility in catle [13,14]. The impacts of insertion-deletion (indel) polymorphisms within a location 1.6 kbp upstream of exon 1 and inside intron 1 (23-bp and 12-bp, respectively) on BSE susceptibility are determined by further analyses in catle [15][16][17]. Despite the fact that catle with the -/-23 bp promoter genotype and the -/12 bp intron 1 genotype have both been signiicantly connected with BSE, it could not be reached any consensus on which genotype is most identiied with BSE [13,15,16,18]. In addition, indel polymorphisms that afect the sensitivity o...

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“…In Italian goats, different SNPs were found at codons G/V 37 , T/P 110 , G/S 127 , L/Q 133 , M/I 137 , I/M 142 and T 142 , H/R 143 , R/H 151 , R/H 154 , P/Q 168 , T/P 194 , R/Q 211 , Q/K 222 and S/P 240 (Colussi et al, 2010). Moreover, in an Italian case-control study, the H154 variation in goats was statistically associated with Nor98 (Colussi et al, 2008). In Greece and Cyprus, goats represent one of the largest populations in Europe; in these countries, several scrapie cases have been registered (European Commission, 2012).…”

Section: Role Of Prnp In Small Ruminantsmentioning

confidence: 99%

“…The onset of clinical signs in atypical scrapie is characterised by ataxia, with lack of coordination and itching (Colussi et al, 2009). Goats affected by classical scrapie are between 2 and 5 years old, whereas goats affected by atypical scrapie are usually 6 years old or older (Colussi et al, 2008). However, there are variations in the clinical symptoms between individual animals or between animals of different breeds, and these variations are always influenced by the prion strain and the animal's genotype (Gavier-Widén et al, 2005;Radostits et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

Review: A review on classical and atypical scrapie in caprine: Prion protein gene polymorphisms and their role in the disease

Curcio

Sebastiani

Lorenzo

et al. 2016

Animal

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Scrapie is a naturally occurring transmissible spongiform encephalopathy in sheep and goat. It has been known for~250 years and is characterised by the accumulation of an abnormal isoform of a host-encoded prion protein that leads to progressive neurodegeneration and death. Scrapie is recognised in two forms, classical and atypical scrapie. The susceptibility to both types of scrapie is influenced by polymorphisms of the prion protein gene (PRNP). Sheep susceptibility or resistance to classical scrapie is strongly regulated by the polymorphisms at codons 136, 154 and 171 of the PRNP. The genetic role in atypical scrapie in sheep has been defined by polymorphisms at codons 141, 154 and 171, which are associated with different degrees of risk in the occurrence of the ovine disease. Progress has been achieved in the prevention of scrapie in sheep due to efficient genetic breeding programmes based on eradication and control of the disease. In Europe, the success of these programmes has been verified by applying eradication and genetic selection plans. In general terms, the ovine selection plans aim to eliminate and reduce the susceptible allele and to enrich the resistant allele ARR. During outbreaks all susceptible animals are slaughtered, only ARR/ARR resistant rams and sheep and semi-resistant females are preserved. In the occurrence of scrapie positive goats a complete cull of the flock (stamping out) is performed with great economic loss and severe risk of extinction for the endangered breeds. The ability to select scrapie-resistant animals allows to define new breeding strategies aimed to boost genetic progress while reducing costs during scrapie outbreaks. Allelic variants of PRNP can be protective for caprine scrapie, and the knowledge of their distribution in goats has become very important. Over the past few years, the integration of genetic information on goat populations could be used to make selection decisions, commonly referred to as genetic selection. The objective of this review was to summarise the main findings of polymorphisms of the caprine prion protein (PrP) gene and to discuss the possible application of goat breeding schemes integrating genetic selection, with their relative advantages and limitations.

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Histidine at codon 154 of the prion protein gene is a risk factor for Nor98 scrapie in goats

Cited by 59 publications

References 27 publications

Scrapie e seu diagnóstico diferencial em ovinos no Mato Grosso do Sul

Scrapie e seu diagnóstico diferencial em ovinos no Mato Grosso do Sul

Genetic Resistance to Prion Diseases

Review: A review on classical and atypical scrapie in caprine: Prion protein gene polymorphisms and their role in the disease

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