β-galactosidase activity in fibroblasts and tissues from sheep with a lysosomal storage disease

AJ Ahern-Rindell, RD Murnane, DJ Prieur - Biochemical genetics, 1988 - Springer
AJ Ahern-Rindell, RD Murnane, DJ Prieur
Biochemical genetics, 1988Springer
Tissues and fibroblasts of sheep affected with an inherited, neuronal lysosomal storage
disease expressed a deficiency of β-galactosidase activity. Cerebrum, kidney, lung, spinal
cord, and spleen from affected sheep had less than 8% of the β-galactosidase activity
present in the respective tissues of normal sheep. No evidence for the presence of an
endogenous inhibitor in affected sheep was detected by mixing studies. Liver of affected
sheep expressed a deficiency of β-galactosidase activity only in the presence of the β-d …
Abstract
Tissues and fibroblasts of sheep affected with an inherited, neuronal lysosomal storage disease expressed a deficiency of β-galactosidase activity. Cerebrum, kidney, lung, spinal cord, and spleen from affected sheep had less than 8% of the β-galactosidase activity present in the respective tissues of normal sheep. No evidence for the presence of an endogenous inhibitor in affected sheep was detected by mixing studies. Liver of affected sheep expressed a deficiency of β-galactosidase activity only in the presence of the β-d-glycosidase inhibitors, glucono-δ-lactone and 2,5-dihydroxymethyl-3,4-dihydroxypyrrolidine. In these studies, we demonstrated the existence of tissue-specific β-galactosidases in sheep and showed that the affected sheep have a deficiency of the lysosomal β-galactosidase. Our results suggest that the high residual β-galactosidase activity in liver of affected sheep can be attributed to a nonlysosomal β-galactosidase that has a neutralpH optimum and may be under temporal regulation.
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