09/03/2020

As the population ages, Alzheimer’s disease is expected  to affect 135 million people by 2025.

This condition presents initially as mild cognitive impairment such as, occasional forgetting of details, misplacing ítems and symptoms that are usually attributed to stress or simply “aging”. As the disease worsens, early-stage Alzheimer’s disease brings more noticeable memory deficits and ultimately, late-stage Alzheimer’s disease probable leads to non-verbal or incoherent speech in patients, severe sleep and motor deficits and become increasingly aggresive, paranoid or unresponsive.

Recent studies have revealed that by the time cognitive impairment is noticed by a patient or relatives, Alzheimer’s disease may be irreversible without interventions.

Biomarkers are critical for catching the disease early to allow for the preventative interventions. Mutations in amyloid precursor protein (APP) are the only definitive genetic biomarkers as well as presenilin enzymes 1 and 2 (PSEN1 and PSEN2). Each of these genes contribute to the aberrant production of the peptide Aß40/42, which aggregate into the amyloid plaque deposits in the brain that lead to Alzheimer’s disease.

Studies regarding genome association are trying to identify risk and protective factors for Alzheimer’s disease. These studies may reveal reliable mono- or oligogenic signatures of increased risk for Alzheimer’s disease that will allow patients to adopt early interventions.

There are plenty of investigational drugs for the treatment of Alzheimer’s disease, but a recent study suggested that 99,6% of them end in failure. One reason for this failures maby be that studies were initiated too late in disease, after the condition has become inevitable. Nonetheless, several ongoing trials aim to prevent Alzheimer’s disease before can take root.

Thus, new approaches to discovering druggable targets, to validating biomarkers for early diagnosis and to optimizing clinical trials for investigatyional therapies are required. 

Autor: Ana Martín