Page 76 - Memora anual Fundación CIEN 2017
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3.2.5. Department of Molecular Genetics evolution is largely determined by genetic risk
variants and is associated with biochemical chan-
The aging of the population and the growing epi- ges that can ideally serve as early markers of the di-
demic of Alzheimer's disease (AD) highlight the im- sease.
portance of research in the molecular mechanisms
of pathology, as well as in the development of me- Department activities
thods for the early detection of the disease to carry
out an adequate evaluation of risk and to be able to The activity of the Molecular Genetics Department
implement early and effective therapies. Currently, it focuses mainly on the search for biomarkers of early
is widely accepted that changes at the cellular level diagnosis of Alzheimer's disease and the study of ge-
associated with AD, including the formation of neu- netic susceptibility factors of AD and other neuro-
rofibrillary plaques and tangles, begin many years degenerative disorders. This activity has the following
before clinical symptoms are evident or the exis- objectives: to deepen the molecular basis of the di-
tence significant cell death in the brain. Therefore, sease and develop predictive algorithms that com-
the development of biomarkers that allow the bine information on genetic and biochemical
identification of patients with incipient AD or as- markers with diagnostic, prognostic or response
ymptomatic people at risk is of great importance, value to modifying therapies.
so that treatments aimed at stopping neurodege-
neration can be initiated before it becomes irrever- For this purpose, the Department's research is con-
sible. nected with the activities of the Multidisciplinary Sup-
port Unit, and the Departments of Neuroimaging,
The most extensively studied biochemical markers Neuropathology and BT-CIEN on the two main rese-
are the tau protein (total levels and different phos- arch projects in the CIEN Foundation and Queen
phorylated isoforms) and the amyloid β peptide in Sofia Foundation: the Vallecas project for early de-
cerebrospinal fluid (CSF), that are both directly rela- tection of AD and the. Basic research project at the
ted to neurofibrillary and amyloid pathology, res- Alzheimer Healthcare Center from the Queen Sofia
pectively. However, the drawbacks derived from Foundation.
obtaining CSF, together with a limited precision of
these assays in early phases, highlight the need to It is currently known that the pathological processes
identify new markers. Currently, many researchers that determine Alzheimer begin many years before
believe that both the development of neurofibrillary the disease leads to the first noticeable symptoms in
and amyloid pathologies in AD represent relatively patients. Years before that future drug treatments
late events in the evolution of the disease, which preventing or slowing down disease progression
may or may not reflect the fundamental biochemi- could be applied to the "population at risk" who has
cal-molecular dysfunctions that give rise to the dise- developed these subclinical lesions, or has a higher
ase. The clinical manifestations of AD are preceded risk of developing it than the rest of the population.
by an asymptomatic preclinical phase, after which
the first symptoms appear in the prodromal phase of In this context it is framed the Vallecas Project,
the disease characterized by mild cognitive impair- which is constituted as a 5-year longitudinal study
ment (MCI). In this sense, AD can be understood as specifically aimed at discovering the factors that
a continuous process that evolves from the as- would allow us to detect this "population at risk" in
ymptomatic phases to the dementia phase. This a phase of potentially treatable pathology.
CIEN Foundation Annual Report 2017 / 76
