β-Amyloid precursor protein, ETS-2 and collagen alpha 1 (VI) chain precursor, encoded on chromosome 21, are not overexpressed in fetal Down syndrome: further evidence against gene dosage effect

Author(s):  
E. Engidawork ◽  
N. Balic ◽  
M. Fountoulakis ◽  
M. Dierssen ◽  
S. Greber-Platzer ◽  
...  
Amino Acids ◽  
2003 ◽  
Vol 24 (1) ◽  
pp. 119-125 ◽  
Author(s):  
M. S. Cheon ◽  
M. Bajo ◽  
S. H. Kim ◽  
J. O. Claudio ◽  
A. K. Stewart ◽  
...  

Amino Acids ◽  
2003 ◽  
Vol 24 (1) ◽  
pp. 127-134 ◽  
Author(s):  
M. S. Cheon ◽  
S. H. Kim ◽  
V. Ovod ◽  
N. Kopitar Jerala ◽  
J. I. Morgan ◽  
...  

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Robin L. Webb ◽  
M. Paul Murphy

Individuals with Down Syndrome (DS), or trisomy 21, develop Alzheimer’s disease (AD) pathology by approximately 40 years of age. Chromosome 21 harbors several genes implicated in AD, including the amyloid precursor protein and one homologue of theβ-site APP cleaving enzyme, BACE2. Processing of the amyloid precursor protein byβ-secretase (BACE) is the rate-limiting step in the production of the pathogenic Aβpeptide. Increased amounts of APP in the DS brain result in increased amounts of Aβand extracellular plaque formation beginning early in life. BACE dysregulation potentially represents an overlapping biological mechanism with sporadic AD and a common therapeutic target. As the lifespan for those with DS continues to increase, age-related concerns such as obesity, depression, and AD are of growing concern. The ability to prevent or delay the progression of neurodegenerative diseases will promote healthy aging and improve quality of life for those with DS.


Sign in / Sign up

Export Citation Format

Share Document