Dementia and geriatric cognitive disorders · 2009
Genetic association of a cathepsin D polymorphism and sporadic Creutzfeldt-Jakob disease.
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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
Аннотация
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.
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.