Page 79 - Memora anual Fundación CIEN 2017
P. 79
3. SCIENTIFIC ACTIVITY
Distribution of genotypes of APOE rated into the CIEN Tissue Bank (BT-CIEN, for its
gene in the population of volunteers from acronym in Spanish) collection according to the pro-
the Vallecas Project tocols of the biobank. The total number of samples
incorporated to the BT-CIEN so far, corresponding to
APOE genotypes the Alzheimer project monitoring program, adds up
to 2,420 (14.0% patients corresponding to the Day
ε2/ε2 ε2/ε4 Centre), which have resulted in a total of 33,880 ali-
quots of different fractions derived from blood sam-
ε4/ε4 5 10 ples.
12 1% 1%
Consistent with other studies, the analysis of the
1% ε2/ε3 APOE gene polymorphism in CAFRS patients revea-
led a high presence of allele ε4, which in this popu-
118 lation appears to be more prevalent in men. In
addition, the phenomenon of advancement of the
10% age of onset of Alzheimer's disease associated with
ε3/ε4 the ε4 allele observed in other cohorts, is noted, as it
is the reverse phenomenon of delayed age of onset
195 associated with the ε2 allele.
16%
ε3/ε3
848
71%
ropsychological assessment by the Multidisciplinary Other projects Currently, several lines of study are
Support Unit (UMA. for its acronym in Spanish), ii) a being followed up based on the combined use of
biannual blood sampling, coincident with the usual biochemical markers and genetic data. In 2017, the
one taken at the residence, iii) conducting an an- project entitled "Vascular dysfunction associated
nual cranial MRI if the patient's condition allows it, with Alzheimer's disease (FIS project)" is concluded,
and iv) donation of brain tissue after patient's death. which has continuity in other complementary pro-
jects that have begun this year, focused on the
study of biomarkers for the early diagnosis of AD and
the analysis of genetic risk factors.
The CAFRS takes care of 156 patients in residence, MicroRNAs and lipid metabolism markers as
and 40 patients in the Day Centre. The Alzheimer potential links between vascular dysfunction and
project-monitoring program includes obtaining a
blood sample biannually coinciding with the one Alzheimer’s physiopathology
routinely performed at the Center for conventional
analytics. Thus, performing a venipuncture in the pa- During 2017, the study of microRNA as potential bio-
tient for research purposes only is avoided. After ex- markers of AD has begun, in collaboration with Dr.
traction, each blood sample is processed at once, Tobias Engel (Royal College of Surgeons, Dublin, Ire-
resulting in 14 aliquots comprising various hematolo- land). In this context, funding has been obtained
gic derivatives (whole blood, plasma, serum, etc.), from MINECO (RETOS call for projects) for carrying
including extraction of DNA for genetic studies. out the project entitled "miRNA and lipid metabolism
Aliquots obtained from blood samples are incorpo- markers as potential links between vascular dysfunc-
tion and Alzheimer's pathophysiology", whose main
CIEN Foundation Annual Report 2017 / 79
