Impaired glucose metabolism in adult Down Syndrome (DS) has been well-docum
ented in vivo and information on the underlying biochemical defect i.e. abe
rrant glucose handling enzymes is already available. Nothing is known on ca
rbohydrate handling, however, in early life of DS patients, when no seconda
ry phenomena as e.g. Alzheimer-like neuropathology occur in the brain yet.
We therefore determined a series of key enzymes of carbohydrate metabolism
in fetal control and DS brain during the early second trimenon. We used two
-dimensional electrophoresis with subsequent MALDI characterization and spe
cific software for quantification of protein spots.
We observed comparable levels of phosphoglycerate mutase, phosphoglycerate
kinase 1; fructose-biphosphate aldolase A, fructose bisphosphate aldolase C
; ribose-phosphate pyrophosphokinase 1; D-phosphoglycerate dehydrogenase, 6
-phosphogluconolactonase; aflatoxin B1 aldehyde reductase 1, aldose reducta
se; inosine-5 ' -monophosphate dehydrogenase 2; galactokinase, in brain of
fetal controls and DS.
We conclude that our biochemical findings point to the fact that DS patient
s start early life with unchanged glucose handling, pentose phosphate shunt
, glycolysis, sugar aldehyde, guanine nucleotide- and ribonucleoside format
ion and galactose metabolism.