Format

Send to

Choose Destination
Bioessays. 2002 Aug;24(8):681-4.

Mitochondrial dysfunction and Down's syndrome.

Author information

1
Medico-Genetic Center, Donetsk, Ukraine. s.arbuzova@lb.dn.ua

Abstract

Neither the pathogenesis nor the aetiology of Down's syndrome (DS) are clearly understood. Numerous studies have examined whether clinical features of DS are a consequence of specific chromosome 21 segments being triplicated. There is no evidence, however, that individual loci are responsible, or that the oxidative damage in DS could be solely explained by a gene dosage effect. Using astrocytes and neuronal cultures from DS fetuses, a recent paper shows that altered metabolism of the amyloid precursor protein and oxidative stress result from mitochondrial dysfunction.1 These findings are consistent with considerable data implicating the role of the mitochondrial genome in DS pathogenesis and aetiology.

PMID:
12210526
DOI:
10.1002/bies.10138
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center