Increased levels of carbonic anhydrase II in the developing Down syndrome brain.
By using a proteomic approach, we found increased levels of carbonic anhydrase II (CA II) in the brain of Ts65Dn mice, a mouse model for Down syndrome (DS). Further immunoblot analyses showed that the levels of CA II are increased not only in the brain of adult Ts65Dn mice but also in the brain of infants and young children with DS. Cellular localization of the enzyme in human brain, predominantly in the oligodendroglia and primitive vessels in fetal brain and in the oligodendroglia and some GABAergic neurons postnatally, was similar in DS subjects and controls. Given the role of CA II in regulation of electrolyte and water balance and pH homeostasis, up-regulation of CA II may reflect a compensatory mechanism mobilized in response to structural/functional abnormalities in the developing DS brain. However, this up-regulation may also have an unfavorable effect by increasing susceptibility to seizures of children with DS.
Palminiello
Sonia
S
San Raffaele Pisana, Rome and San Raffaele Cassino, Italy.
Kida
Elizabeth
E
Kaur
Kulbir
K
Walus
Marius
M
Wisniewski
Krystyna E
KE
Wierzba-Bobrowicz
Teresa
T
Rabe
Ausma
A
Albertini
Giorgio
G
Golabek
Adam A
AA
D015087:2',3'-Cyclic-Nucleotide Phosphodiesterases / Q000378:metabolism; D000818:Animals; D001921:Brain / Q000196:embryology / Q000201:enzymology* / Q000503:physiopathology; D024402:Carbonic Anhydrase II / Q000378:metabolism*; D016022:Case-Control Studies; D004195:Disease Models, Animal; D004314:Down Syndrome / Q000201:enzymology*; D005260:Female; D005786:Gene Expression Regulation / Q000502:physiology; D018507:Gene Expression Regulation, Developmental / Q000502:physiology; D006801:Humans; D015151:Immunoblotting; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D009419:Nerve Tissue Proteins / Q000378:metabolism; D009836:Oligodendroglia / Q000201:enzymology*; D012016:Reference Values; D014018:Tissue Distribution; D014157:Transcription Factors / Q000378:metabolism; D014314:Trisomy / Q000503:physiopathology
D009419:Nerve Tissue Proteins; D014157:Transcription Factors; D015087:2',3'-Cyclic-Nucleotide Phosphodiesterases; D024402:Carbonic Anhydrase II