Page 66 - MaquetaFundCIEN-2019-ENG

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Annual Report 2019
3.2.5. Department of Biochemistry and Molecular Genetics
The aging of the population and the growing epidemic of Alzheimer’s disease (AD) highlight the importance of research in the molecular mechanisms of pathology, as well as in the development of methods for the early detection of the disease to carry out an adequate evaluation of risk and to be able to implement early and effective therapies. Currently, it is widely accepted that changes at the cellular level associated with AD, including the formation of neurofibrillary plaques and tangles, begin many years before clinical symptoms are evident or the existence significant cell death in the brain. Therefore, the development of biomarkers that allow the identification of patients with incipient AD or asymptomatic people at risk is of great importance, so that treatments aimed at stopping neurodegenera- tion can be initiated before it becomes irreversible.
The most extensively studied biochemical markers are the tau protein (total levels and different phosphorylated isoforms) and the amyloid β peptide in cerebrospi- nal fluid (CSF), that are both directly related to neurofibrillary and amyloid pathol- ogy, respectively. However, the drawbacks derived from obtaining CSF, together with a limited precision of these assays in early phases, highlight the need to iden- tify new markers, in particular in more accessible biological fluids such as blood. Currently, many researchers believe that both the development of neurofibrillary and amyloid pathologies in AD represent relatively late events in the evolution of the disease, which may or may not reflect the fundamental biochemical-molecu- lar dysfunctions that give rise to the disease. The clinical manifestations of AD are preceded by an asymptomatic preclinical phase, after which the first symptoms appear in the prodromal phase of the disease characterized by mild cognitive impairment (MCI). In this sense, AD can be understood as a continuous process that evolves from the asymptomatic phases to the dementia phase. This evolution is largely determined by genetic risk variants and is associated with biochemical changes that can ideally serve as early markers of the disease.
Department activities
The activity of the Molecular Genetics Department focuses mainly on the search for biomarkers of early diagnosis of Alzheimer’s disease and the study of genetic susceptibility factors of AD and other neurodegenerative disorders. This activity has the following objectives: to deepen the molecular basis of the disease and develop predictive algorithms that combine information on genetic and biochemi- cal markers with diagnostic, prognostic or response value to modifying therapies.
For this purpose, multidisciplinary research with the rest of the CIEN Foundation departments, together with the CIEN Tissue Bank (BT-CIEN), are decisive for work- ing on the two main projects of the CIEN Foundation-Queen Sofia Foundation: the Vallecas Project for the early detection of Alzheimer’s disease and the Alzheimer’s Center of the Queen Sofia Foundation Research Program.