Biomarkers in Down Syndrome

• Grant number: 18/13398-6
• Support Opportunities: Scholarships in Brazil - Doctorate
• Effective date (Start): December 01, 2018
• Effective date (End): February 28, 2022
• Field of knowledge: Health Sciences - Medicine - Psychiatry
• Principal Investigator: Orestes Vicente Forlenza
• Grantee: Jessyka Maria de França Bram Monezi
• Host Institution: Instituto de Psiquiatria Doutor Antonio Carlos Pacheco e Silva (IPq). Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

As a result of improvements in living conditions, life expectancy as well as the pace of population aging has increased dramatically in the world. This scenario is not far from the reality of adults with Down Syndrome (DS). Currently, it is estimated that 1 in 1000 live births worldwide has SD. In addition to the close relationship with intellectual disability, DS is directly associated with a group of clinical manifestations due to premature aging. Thus, people with DS may present patterns of comorbidities similar to those found in the elderly. Therefore, there is an increased risk of developing Alzheimer's Disease (AD) in DS, associated with the increased number of years lived, especially regarding the interaction between the pathogenic mechanisms related to cerebral amyloidogenesis and the factors inherent to premature aging in the DS. Thus, this study aims to investigate biological markers of aging and Alzheimer's disease in peripheral blood samples from adult and elderly individuals with Down's syndrome and to compare them with the control group. For this, a sample of 30 individuals with DS and 30 with normal karyotype, stratified by age (20-34, 35-49, and e50 years) and cognitive performance will be constituted. For analysis of the potential biomarkers of AD and cellular aging, the Amyloid Precursor Protein (APP) ratio will be determined in platelets by the ratio between the 130- and 110kDA secreted peptides (sAPP), as well as the protein expression of APP alpha-secretases (ADAM-10), beta (BACE-1) and gamma (PSEN-1); and in leukocytes the telomere length for later comparison between groups. (AU)