J Korean Med Sci.  1998 Jun;13(3):234-240. 10.3346/jkms.1998.13.3.234.

Molecular analysis of prion protein gene (PRNP) in Korean patients with Creutzfeldt-Jakob disease

• Jeong BH
• Ju WK
• Huh K
• Lee EA
• Choi IS
• Im JH
• Choi EK
• Kim YS

• KMID: 1745544
• DOI: http://doi.org/10.3346/jkms.1998.13.3.234

Abstract

Creutzfeldt-Jakob disease (CJD), a relatively uncommon human dementia, is caused by an unconventional slow infectious agent. Several cases of CJD, clinically or histopathologically diagnosed, have been reported in Korea. In order to confirm the diagnosis of CJD and also differential diagnosis of sporadic and familial types of CJD in Korea, we studied two patients who had symptoms of CJD. The histopathological and immunohistochemical studies showed spongiform neurodegeneration and expression of abnormal isoform of prion protein (PrPSc) in astrocytes. Thus, these two patients were diagnosed CJD. To investigate whether these patients were sporadic or familial type of CJD, the molecular analyses of the prion protein gene (PRNP) were done by restriction fragment length polymorphism (RFLP) and DNA sequencing. In the cases of a healthy Korean and two CJD patients, no point mutation was detected in the known hot spots (178, 180, 200, 210, and 232) and they exhibited wild type PRNP sequences. We concluded that both patients have a sporadic type of CJD, but not familial type.

MeSH Terms

Base Sequence
Biopsy
Brain/pathology
Creutzfeldt-Jakob Syndrome/pathology
Creutzfeldt-Jakob Syndrome/genetics*
Creutzfeldt-Jakob Syndrome/diagnosis
DNA/genetics
DNA/analysis
Human
Immunohistochemistry
Molecular Sequence Data
Open Reading Frames
Polymorphism, Restriction Fragment Length
Prions/genetics*