Evidence for a pathogenic role of different mutations at codon 188 of PRNP

Roeber S, Grasbon-Frodl EM, Windl O, Krebs B, Xiang W, Vollmert C, Illig T, Schroeter A, Arzberger T, Weber P, Zerr I, Kretzschmar HA (2008)

Publication Type: Journal article

Publication year: 2008

Journal

PLoS ONE Public Library of Science

Book Volume: 3

Article Number: e2147

Journal Issue: 5

DOI: 10.1371/journal.pone.0002147

Abstract

Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CID) cases may be similar or indistinguishable from sporadic CJD. Therefore determination of novel mutations in PRNP remains of major importance. We identified two different rare mutations in codon 188 of the prion protein gene (PRNP) in four patients suffering from a disease clinically very similar to the major subtype of sporadic CJD. Both mutations result in an exchange of the amino acid residue threonine for a highly basic residue, either arginine (T188R) or lysine (T188K). The T188R mutation was found in one patient and the T188K mutation in three patients. The prevalence of mutations at codon 188 of PRNP was tested in 593 sporadic CJD cases and 735 healthy individuals. Neither mutation was found. The data presented here argue in favor of T188K being a pathogenic mutation causing genetic CJD. Since one individual with this mutation, who is the father of a clinically affected patient with T188K mutation, is now 79 years old and shows no signs of disease, this mutation is likely associated with a penetrance under 100%. Further observations will have to show whether T188R is a pathogenic mutation. © 2008 Roeber et al.

Authors with CRIS profile

Wei Xiang

Involved external institutions

Ludwig-Maximilians-Universität (LMU) DE Germany (DE) Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt (HMGU) / Helmholtz Munich DE Germany (DE) Georg-August-Universität Göttingen DE Germany (DE)

How to cite

APA:

Roeber, S., Grasbon-Frodl, E.-M., Windl, O., Krebs, B., Xiang, W., Vollmert, C.,... Kretzschmar, H.A. (2008). Evidence for a pathogenic role of different mutations at codon 188 of PRNP. PLoS ONE, 3(5). https://doi.org/10.1371/journal.pone.0002147

MLA:

Roeber, Sigrun, et al. "Evidence for a pathogenic role of different mutations at codon 188 of PRNP." PLoS ONE 3.5 (2008).

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