This study examined the relationship between a BACE1 gene polymorphism and sporadic Creutzfeldt-Jakob disease (sCJD) risk in 237 sCJD patients and 329 healthy controls in Spain. The researchers found an association between the BACE1 C allele and increased sCJD risk in individuals who were homozygous for the M129M PRNP polymorphism. Additionally, they found this association was stronger in individuals with earlier sCJD onset. The results suggest there may be an interaction between the BACE1 and PRNP genes that influences sCJD risk and age of onset.

1. K. Rubio
“A COMMON BACE1
POLYMORPHISM IS A RISK
FACTOR FOR SPORADIC
CREUTZFELDT JAKOB
DISEASE. “

2.  Neurodegenerative disorder
 Wrong folding protein (Prion- PrP)
 Accumulates amyloid plaques
 Symptoms similar to Alzheimer's disease
CREUTZFELDT JAKOB DISEASE (CJD)

3.  PrP is acquired by eating contaminated
 In many cases the cause is endogenous
 PrP can be encoded in AND
CREUTZFELDT JAKOB DISEASE (CJD)

4.  To relate the BACE1 polymorphism with the risk of CJD
develops by its interaction with the prion protein.
OBJETIVE

5.  237 sCJD patients
 329 healthy controls
 Differents hospitals of Madrid, Spain
 Manifestation of genetic CJD were excluded
 DNA analysis
 11 chromosome polymorphism
METHODOLOGY

6.  Association of BACE1 allele C with sCJD in the PRNP
homozygous M129M
 Association of BACE1 C allele that is found in the stratum
M129M homozygotes is mainly present in individuals with
early onset of CJD
 There is possible interaction between genes and BACE1
PRNP, the interaction between these two genes is age-
dependent.
RESULTS

7.  BACE1 is a transmembrane aspartic protease with a key role
in the Beta amyloid formation, and in the APP production in
the intracellular domain and plays a role in the transcription.
DISCUSSION

8.  Other countries and different continents data?
 The results are ambiguous and inconclusive probably
 Comparison between genetic and sporadic Creutzfeldt Jakob?
OWN DISCUSSION