Genetic Association of a Cathepsin D Polymorphism and Sporadic Creutzfeldt-Jakob Disease

作者：Jeong Byung Hoon; Lee Kyung Hee; Lee Yun Jung; Yun Jisuk; Park Young Jae; Bae Yoonsang; Kim Young Hoon; Cho Young Sook; Choi Eun Kyoung; Carp Richard I; Kim Yong Sun^*

来源：Dementia and Geriatric Cognitive Disorders, 2009, 28(4): 302-306.

DOI：10.1159/000246343

• Cathepsin D
• Prion
• Creutzfeldt-Jakob disease
• Population genetics
• Single nucleotide polymorphism

Background: Cathepsin D is the most abundant lysosomal and endosomal aspartyl protease; it shows beta and gamma secretase activity in vitro by cleaving the amyloid precursor protein into amyloid beta protein. In recent studies, cathepsin D was co-localized with PrP(Sc), the disease-associated form of the prion disease, and abnormal expression of cathepsin D correlated with tissue damage in brains of sporadic Creutzfeldt-Jakob disease (CJD). Objective: To investigate whether a polymorphism at position 224, C224T, on exon 2 of the cathepsin D gene (CTSD) is associated with sporadic CJD in the Korean population. Methods: We compared the genotype and allele frequencies at this polymorphism site in 172 sporadic CJD patients with those in 197 healthy Koreans. Results and Conclusion: Our study does not show a significant difference in genotype (p = 0.901) and allele (p = 0.509) frequencies of CTSD C224T between sporadic CJD patients and normal controls. This was the first genetic association study of CTSD in a sporadic CJD population.

• 出版日期2009