Cystathionine beta-synthase is enriched in the brains of Down's patients.
Down's syndrome (DS) or trisomy 21 is the most common genetic cause of mental retardation, and adults with DS develop Alzheimer type of disease (AD). Cystathionine beta-synthase (CBS) is encoded on chromosome 21 and deficiency in its activity causes homocystinuria, the most common inborn error of sulfur amino acid metabolism and characterized by mental retardation and vascular disease. Here, we show that the levels of CBS in DS brains are approximately three times greater than those in the normal individuals. CBS is localized to astrocytes and those surrounding senile plaques in the brains of DS patients with AD. The over-expression of CBS may cause the developmental abnormality in cognition in DS children and that may lead to AD in DS adults.
Ichinohe
Akiko
A
National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8551, Japan.
Kanaumi
Takeshi
T
Takashima
Sachio
S
Enokido
Yasushi
Y
Nagai
Yasuo
Y
Kimura
Hideo
H
D000293:Adolescent; D000328:Adult; D000375:Aging / Q000502:physiology; D001344:Autopsy; D001921:Brain / Q000196:embryology / Q000201:enzymology* / Q000254:growth & development / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003541:Cystathionine beta-Synthase / Q000378:metabolism*; D004314:Down Syndrome / Q000196:embryology / Q000201:enzymology* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged
D003541:Cystathionine beta-Synthase