Biomaterial Database

Biochemical and histochemical analysis of lysosomal enzyme activities in caprine beta-mannosidosis. 1994

K L Lovell, and R J Kranich, and K T Cavanagh

Department of Pathology, Michigan State University, East Lansing 48824.

Goats affected with beta-mannosidosis, an autosomal recessive disease of glycoprotein catabolism, have deficient tissue and plasma levels of the lysosomal enzyme beta-mannosidase. Pathological characteristics include cytoplasmic vacuolation in the nervous system and viscera, and myelin deficits that demonstrate regional variation. This study was designed to determine the correlation between beta-mannosidase activity in normal animals and the severity of lesions in affected goats, and to assess the regional changes in lysosomal enzyme activity in specific regions and cell types in affected animals. Although enzyme activity in normal organs (kidney, thyroid, brain) is correlated in general with the accumulation of uncatabolized substrate and with the extent of vacuolation, this correlation does not extend to assessment of specific regions of the central nervous system (CNS). In affected goats, the activities of alpha-mannosidase, alpha-fucosidase, and beta-hexosaminidase are elevated to a greater extent in all CNS regions than in organs. The results suggest cell-specific, organ-specific, and enzyme-specific regulation of changes in lysosomal enzyme activity in the presence of metabolic perturbations, such as deficiency of beta-mannosidase activity.

UI	MeSH Term	Description	Entries
D007668	Kidney	Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.	Kidneys
D008247	Lysosomes	A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured or undergoes MEMBRANE FUSION. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed).	Autolysosome,Autolysosomes,Lysosome
D008297	Male		Males
D008361	Mannosidases	Glycoside hydrolases that catalyze the hydrolysis of alpha or beta linked MANNOSE.	Mannosidase
D008363	alpha-Mannosidosis	An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.	Mannosidosis, alpha B, Lysosomal,Alpha-D-Mannosidosis,Alpha-Mannosidase B Deficiency,Alpha-Mannosidosis, Type I,Lysosomal Alpha B Mannosidosis,Lysosomal alpha-D-Mannosidase Deficiency,Mannosidosis, alpha B Lysosomal,alpha Mannosidase B Deficiency,alpha-Mannosidase Deficiency,Deficiencies, Lysosomal alpha-D-Mannosidase,Deficiencies, alpha-Mannosidase,Deficiency, Lysosomal alpha-D-Mannosidase,Deficiency, alpha-Mannosidase,Lysosomal alpha D Mannosidase Deficiency,Lysosomal alpha-D-Mannosidase Deficiencies,alpha Mannosidase Deficiency,alpha Mannosidosis,alpha-D-Mannosidase Deficiencies, Lysosomal,alpha-D-Mannosidase Deficiency, Lysosomal,alpha-Mannosidase Deficiencies,alpha-Mannosidoses
D009928	Organ Specificity	Characteristic restricted to a particular organ of the body, such as a cell type, metabolic response or expression of a particular protein or antigen.	Tissue Specificity,Organ Specificities,Specificities, Organ,Specificities, Tissue,Specificity, Organ,Specificity, Tissue,Tissue Specificities
D012016	Reference Values	The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.	Normal Range,Normal Values,Reference Ranges,Normal Ranges,Normal Value,Range, Normal,Range, Reference,Ranges, Normal,Ranges, Reference,Reference Range,Reference Value,Value, Normal,Value, Reference,Values, Normal,Values, Reference
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D005260	Female		Females
D005644	alpha-L-Fucosidase	An enzyme that catalyzes the hydrolysis of an alpha L-fucoside to yield an alcohol and L-fucose. Deficiency of this enzyme can cause FUCOSIDOSIS. EC 3.2.1.51.	Fucosidase,alpha-Fucosidase,alpha Fucosidase,alpha L Fucosidase