Book Chapter

Down syndrome, antioxidant balance and the "gene dosage effect" hypothesis

JB De Haan, PJ Crack, MA Pritchard, I Kola

Oxidative Stress and Neurodegenerative Disorders | Published : 2007


Individuals with Down syndrome (DS)-a cytogenetic abnormality-suffer from a wide range of defects that affect almost every major organ system in the body, although the penetrance and severity vary among DS individuals. A DS brain is associated with decreased neuronal number and abnormal neuronal differentiation. Approximately 95% of DS individuals present with an extra copy of human chromosome 21 (HSA21) in its entirety, while the remainder are either mosaic (a mixture of normal and trisomy 21 cells) or have karyotypes with partial trisomy of HSA21. Therefore, research has focused on understanding how extra chromosomal material contributes to the syndrome. The "gene dosage effect" hypothesis..

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University of Melbourne Researchers