Mutations at Codon 188 of the PRNP Gene and Their Role in Creutzfeldt-Jakob Disease
Author Information
Author(s): Sigrun Roeber, Eva-Maria Grasbon-Frodl, Otto Windl, Bjarne Krebs, Wei Xiang, Caren Vollmert, Thomas Illig, Andreas Schröter, Thomas Arzberger, Petra Weber, Inga Zerr, Hans A. Kretzschmar
Primary Institution: Center for Neuropathology and Prion Research, Ludwig-Maximilians-University, München, Germany
Hypothesis
Are mutations at codon 188 of the PRNP gene associated with genetic Creutzfeldt-Jakob disease?
Conclusion
The study suggests that the T188K mutation in the PRNP gene is likely pathogenic, while the T188R mutation's pathogenicity remains uncertain.
Supporting Evidence
- Two rare mutations at codon 188 of the PRNP gene were identified in four patients with symptoms similar to sporadic CJD.
- The T188K mutation was found in three patients, while the T188R mutation was found in one patient.
- Neither mutation was found in a large cohort of sporadic CJD cases and healthy individuals.
Takeaway
Some people have changes in a gene that might make them sick with a brain disease, but not everyone with the change gets sick.
Methodology
The study involved genetic analysis of patients with suspected CJD and a control group, examining mutations in the PRNP gene.
Potential Biases
Potential bias in diagnosing familial CJD due to reliance on known mutations.
Limitations
The study did not perform autopsies on all patients, and the penetrance of the mutations is not fully understood.
Participant Demographics
Patients were primarily of Caucasian descent from Germany.
Digital Object Identifier (DOI)
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