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Instituto Nacional de Neurología y Neurocirugía

2008, Number 4

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Arch Neurocien 2008; 13 (4)

Prionic diseases genetics

Yescas-Gómez P, López-López M, Franco JL, Alonso-Vilatela ME

Language: Spanish
References: 84
Page: 242-251
PDF size: 124.39 Kb.


ABSTRACT

Prion diseases are a group of fatal neurodegenerative disorders that occur in inherited, acquired and sporadic forms, a characteristic that makes them unique. Herein, we review the literature to update the current knowledge of these diseases, with particular emphasis on the inherited forms. The PRNP gene is located on chromosome 20 and contains two exons and one intron. It encodes the prion protein (PrPc) that comprises 253 aminoacids and exhibits a polymorphism on the codon 129 (valine or metionine) that can modify the disease phenotype. The hallmark of prion diseases is the misfolding of the prion protein observed in the brain of affected individuals (prion-only hypothesis). Creutzfeldt- Jackob disease (CJD) can be sporadic or iatrogenic and there is a new variant. Dominantly inherited forms include familial CJD, Gerstmann-Straussler-Scheinker disease, and fatal familial insomnia that arise from germline mutations in the PRNP gene. There are three types of pathogenic PRNP mutations: point mutations leading to an aminoacid substitution or premature stop codon, and insertion of additional octapeptide repeats. Predictive diagnosis is possible in all inherited prion diseases, resulting in ethical issues. Even though prion diseases have been known for several years they are an enigma in biology, thus a better understanding of the underlying mechanisms that generate them is needed.


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