K. Rubio

“A COMMON BACE1 POLYMORPHISM IS A RISK

FACTOR FOR SPORADIC CREUTZFELDT JAKOB DISEASE. “

Neurodegenerative disorder Wrong folding protein (Prion- PrP)Accumulates amyloid plaques Symptoms similar to Alzheimer's disease

CREUTZFELDT JAKOB DISEASE (CJD)

PrP is acquired by eating contaminated In many cases the cause is endogenousPrP can be encoded in AND

CREUTZFELDT JAKOB DISEASE (CJD)

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

OBJETIVE

237 sCJD patients 329 healthy controlsDiff erents hospitals of Madrid, SpainManifestation of genetic CJD were excludedDNA analysis 11 chromosome polymorphism

METHODOLOGY

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

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

Other countries and diff erent continents data?The results are ambiguous and inconclusive probably Comparison between genetic and sporadic Creutzfeldt

Jakob?

OWN DISCUSSION