New perspectives for Pharmacological intervention in young and old persons with Trisomy 21(Down syndrome)

Jacqueline London

Abstract

Trisomy 21 (DS) is a genetic disorder that results from the triplication of entire or part of chromosome 21 (Chr21) and its occurence is 1 every 1000/1500 live births without family inheritance known. It is so far considered as the major genetic cause of intellectual disability. The brain development defictis induce intellectual disabilities which affect language, learning, memory but also motor,sensory and sleep deficits. Moreover, although their life expectancy has dramatically increased since fifty years, itis reported that individuals with DS exhibit accelerating aging in many systems including also behavioural abnormalities and early neurodegeneration. Thus early pharmacological intervention is necessary to improve daylife for children and young adults in order to live normally in the general population, but also to prevent early aging. Several early studies support the link between the DS phenotype and an increased risk of Alzheimer (AD) development with an incidence of dementia which increases dramatically by the age of 60 years. Although the AD neuroanatomopathology is present in virtually all adults, all adults over 60 years will not develop dementia. As all the chromosome 21 genes are known and they are good trisomic mouse and rat models to study DS. Thus many new pharmacological pathways are on development using these models either for early intervention to increase intellectual abilities or to prevent the hallmarks of early AD. These approaches for various pharmacological interventions will be discussed.

Relevant Publications in Journal of Translational Neurosciences