About this Research Topic
Down syndrome (DS) is the most common developmental genetic disorder and a leading cause of intellectual disability. DS is caused by triplication of the chromosome 21 (HSA21), with an incidence of approximately 1 in 700 to 1000 births. It is estimated to affect approximately 400,000 people in the US and 5 to 8 million world-wide. Improvements in resources and treatments provided to individuals with DS have increased their average life expectancy, and currently many are living beyond 60 years. Unfortunately, this is associated with several neurological disorders, such as dementia, and represents an increasing health care challenge.
The neurobiology underlying the onset of dementia in individuals with DS remains under investigated, and subsequently all potential treatments. In has been shown that within the fourth decade of life virtually all people with DS exhibit the classical neuropathological lesions of Alzheimer's disease (AD): tau containing neurofibrillary tangles (NFTs) and β-amyloid (Aβ) plaques, making DS an excellent natural genetic model to study the pathophysiology of AD. Despite exhibiting AD-like lesions associated with an increased risk of AD like-dementia, it is often overlooked that not all people with DS develop a clinical dementia. Although it has been suggested that NFTs, rather than Aβ pathology, are linked to dementia in AD, this relationship is controversial in DS.
In this Research Topic we aim to tackle the cellular and molecular mechanisms underlying cognitive decline in DS. The scope of the research topic will include manuscripts detailing:
• Selective neuronal vulnerability in demented and non-demented individuals with DS.
• Neurogenetics, neurochemistry and neuropathology underlying the AD like-dementia phenotype in DS.
• Neuroimaging and biomarkers to help our understanding and treatment of the pathophysiology of dementia in DS.
• In vivo and in vitro models to study pathological changes in DS.
• Developmental biology of DS aimed to comprehend the pathophysiology of cognitive decline and dementia in DS.
Image credits: Dr. Sylvia E Perez and Marta Moreno-Rodriguez.
Photo composition depicting confocal immunofluorescence color-inverted single-labeled images (small panels) revealing TauC3 (celeste, blue) and pS422 (fuchsia) positive neuropil threads and neurofibrillary tangles and merged color-inverted images (large panels) in the frontal cortex of a 59 year-old female demented Down syndrome subject as well as drawings of neurons in a shape of trisomy 21 acronym “t21” (small panels).
Keywords: tau, beta amyloid, dementia, development, biomarkers
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.