21st chromosome and Alzheimer’s Disease

To read on LuMind Foundation website:

What’s the connection between Down syndrome research and Alzheimer’s Disease?



The fundamental cause of late-onset sporadic AD is still largely unknown

  • AD involves formation of characteristic abnormal structures in the brain, including beta-amyloid plaques, leading to damage and death of nerve cells and progressive loss of cognitive function
  • AD is the common cause of dementia, generally appearing after age 65
  • AD affects parts of the brain that control thinking, memory, and language abilities, resulting in the serious loss of cognitive and functional abilities
  • Drugs that prevent or halt the progression of AD are not yet available
  • Opportunities for study and testing of new drug therapies are limited because it is difficult to determine who will develop AD early
  • The near universal development of AD neuropathology in persons with Ds offers insight to identify and develop effective therapies for AD in all individuals


Adults with Ds over 40 develop the characteristic AD neuropathology

  • Ds, in which individuals have an additional copy of chromosome 21, is the most common genetic cause of developmental intellectual disability with impairment in cognition, including learning, memory and speech
  • Children with Ds can begin developing the pathology of AD as early as 8 years old, including the formation of beta-amyloid plaques and neurofibrillary tangles
  • AD associated with Ds is linked to the presence of a third copy of the amyloid pre-protein (APP) gene, located on chromosome 21, which results in increased expression of the APP protein and its products, including beta-amyloid which is the major constituent of AD-associated plaques
  • LuMind-supported research shows reducing the increased APP or overcoming certain effects of its increased presence in animal models of Ds, prevents the development of AD neuropathology and associated effects on cognition

Many people with Ds begin showing signs of Alzheimer’s as early as 40 years old. It is essential that adults with Ds not lose the ground they’ve worked so hard to gain. The results of our research will benefit the Alzheimer’s community, even in individuals without Down syndrome.

Public funding for Down syndrome cognition research is limited. For the past ten years, private funding has provided the catalyst for the incredible breakthroughs in cognition research, including investigating early-onset Alzheimer’s disease in people with Down syndrome.


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