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The brain in Down syndrome.

R Seidl¹, N Cairns, G Lubec

¹Department of Pediatrics, University of Vienna, Austria.

Journal of Neural Transmission. Supplementum

|January 5, 2002

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Down syndrome (trisomy 21) involves brain abnormalities and Alzheimer-type neurodegeneration. Aberrant gene expression on chromosome 21, like APP and SOD1, contributes to this neurodegeneration by disrupting cellular balance.

Area of Science:

Genetics
Neuroscience
Developmental Biology

Background:

Down syndrome (trisomy 21) is a genetic disorder characterized by developmental brain abnormalities.
These abnormalities are linked to early mental retardation and age-dependent Alzheimer-type neurodegeneration.

Purpose of the Study:

To discuss the role of neurodevelopmental abnormalities in Down syndrome.
To investigate the connection between aberrant gene expression on chromosome 21 and neurodegeneration.

Main Methods:

Examined the expression of specific genes on chromosome 21, including amyloid precursor protein (APP), CuZn superoxide dismutase (SOD1), and glial-derived S100 beta protein.
Proposed a model where altered developmental pathways impact cellular homeostasis.

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Main Results:

Aberrant gene expression on chromosome 21 can impair cellular homeostasis.
This impairment predisposes to neurodegeneration in specific brain regions and nerve cell types.

Conclusions:

Developmental abnormalities in Down syndrome are linked to aberrant gene expression on chromosome 21.
Altered gene expression shifts the balance toward a pro-apoptotic state, contributing to neurodegeneration and affecting neurotransmission.