acid-phosphatase and Seizures

Lysosomal acid phosphatase (LAP) is a tartrate-sensitive enzyme with ubiquitous expression. Neither the physiological substrates nor the functional significance is known. Mice with a deficiency of LAP generated by targeted disruption of the LAP gene are fertile and develop normally. Microscopic examination of various peripheral organs revealed progredient lysosomal storage in podocytes and tubular epithelial cells of the kidney, with regionally different ultrastructural appearance of the stored material. Within the central nervous system, lysosomal storage was detected to a regionally different extent in microglia, ependymal cells, and astroglia concomitant with the development of a progressive astrogliosis and microglial activation. Whereas behavioral and neuromotor analyses were unable to distinguish between control and deficient mice, approximately 7% of the deficient animals developed generalized seizures. From the age of 6 months onward, conspicuous alterations of bone structure became apparent, resulting in a kyphoscoliotic malformation of the lower thoracic vertebral column. We conclude from these findings that LAP has a unique function in only a subset of cells, where its deficiency causes the storage of a heterogeneously appearing material in lysosomes. The causal relationship of the enzyme defect to the clinical manifestations remains to be determined.

Topics: Acid Phosphatase; Animals; Antigens, CD; Bone and Bones; Cathepsin D; Central Nervous System Diseases; Fibroblasts; Kidney Diseases; Lysosomal Membrane Proteins; Lysosomal Storage Diseases; Lysosomes; Membrane Glycoproteins; Mice; Microglia; Phenotype; Seizures; Tartrates

The locus for acid phosphatase (ACP1) had been alternately assigned to two conflicting regions on the short arm of chromosome 2. We present a clinical and cytogenetic report of one patient who has an interstitial deletion of 2, del(2) (p23p25.1), and a cytogenetic study of another cell line with an interstitial deletion of 2p (p23.1p25.1). Because both patients are heterozygotes for ACP1, the assignment of ACP1 to 2p25.1----pter is supported.

Topics: Abnormalities, Multiple; Acid Phosphatase; Child; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosome Mapping; Chromosomes, Human, Pair 2; Genetic Markers; Humans; Infant, Newborn; Intellectual Disability; Microcephaly; Seizures

Topics: Acid Phosphatase; Animals; Arteries; Blood Proteins; Blood-Brain Barrier; Chlorides; Female; Glucose; Hyperbaric Oxygenation; Male; Oxygen; Partial Pressure; Potassium; Rabbits; Seizures; Sodium; Veins

EEG registered hippocampal status epilepticus (HSE) was provoked in 41 adult albino rats by intraseptal injection of ouabain, and the hippocampus was studied from 1 1/2 to 24 hr with the enzyme histochemical tests for succinic dehydrogenase (SDH), lactic dehydrogenase (LDH), thiaminopyrophosphatase (TPPase), acid phosphatase (AcPase), Mg2+ adenosine triphosphatase (Mg2++ ATPase), and with general and neurohistological stains. In a first group of animals (1 1/2 to 10 hr of HSE), a stage of general increase in enzymatic activity was detected in the pyramidal neurons (SDH, LDH, AcPase, and TPPase). Mg2+ ATPase showed a marked increase in astrocytes. In a second group (more than 10 hr of HSE), SDH was found decreased in the dendritic fields. LDH activity persisted in neuronal bodies, and AcPase and TPPase showed diffuse activity in the cytoplasm of some pyramidal neurons. In a third group (more than 18 hr of HSE), SDH activity was low. No AcPase granules were observed in some pyramidal neurons and TPPase was negative in some areas of pyramidal layer. Mg2+ ATPase reaction showed scare and retracted astroglial processes. These changes were coincident with "cellular ghosts" observed with hematoxylin-eosin techniques of the same samples in the pyramidal field and were interpreted as cellular death, attributed to relative anoxia following neuronal discharge.

Topics: Acid Phosphatase; Adenosine Triphosphatases; Animals; Hippocampus; Histocytochemistry; Magnesium; Rats; Seizures; Status Epilepticus; Succinate Dehydrogenase; Thiamine Pyrophosphatase

Topics: Acid Phosphatase; Cerebral Cortex; Child; Chorea; Dementia; Female; Histocytochemistry; Humans; Inclusion Bodies; Lipidoses; Male; Microscopy, Electron; Neurons; Pigments, Biological; Seizures; Speech Disorders; Syndrome

Topics: Acetylcholinesterase; Acid Phosphatase; Animals; Brain; Cerebral Cortex; Cobalt; Electrodes, Implanted; Esterases; Glucosephosphate Dehydrogenase; Glycerolphosphate Dehydrogenase; Histocytochemistry; L-Lactate Dehydrogenase; Neuroglia; Neurons; Phosphoric Monoester Hydrolases; Rats; Seizures; Thiamine Pyrophosphate

Topics: Acid Phosphatase; Alkaline Phosphatase; Animals; Antibody-Producing Cells; Brain; Cerebral Cortex; Electroencephalography; Histocytochemistry; Hypersensitivity; Phosphoric Monoester Hydrolases; Rats; Seizures; Sound; Sulfhydryl Compounds

Topics: Acid Phosphatase; Adenosine Triphosphatases; Alkaline Phosphatase; Aluminum Hydroxide; Animals; Brain Chemistry; Cats; Cerebral Cortex; Chronic Disease; Histocytochemistry; Ouabain; Oxygen Consumption; Potassium; Seizures; Sodium

Topics: Acid Phosphatase; Amino Acids; Animals; Brain; Cathepsins; Chickens; Injections, Intraperitoneal; Lysosomes; Oxalates; Plant Extracts; Propionates; Ribonucleases; Seizures; Time Factors; Toxins, Biological

Fluorocitrate, a Krebs cycle inhibitor, induices neurons to rapidly expel multitudinous lysosomes, mitochondria, and other cytoplasmic constituents into their axons. After convulsive seizures commence, spectacular axonal balloons develop owing to obstruction of axonal flow by "log jams" of extruded organelles. A swelling of neuronal mitochondria is apparently responsible for the disgorgement of cytoplasmic material into axons.

Topics: Acid Phosphatase; Animals; Axonal Transport; Axons; Cats; Citric Acid Cycle; Depression, Chemical; Fluoroacetates; Histocytochemistry; Lumbosacral Region; Lysosomes; Microscopy, Electron; Mitochondria; Seizures; Spinal Cord

Topics: Acid Phosphatase; Calcium; Drug Therapy; Feces; Humans; Hypocalcemia; Infant, Newborn; Intestinal Absorption; Magnesium; Magnesium Deficiency; Malabsorption Syndromes; Male; Metal Metabolism, Inborn Errors; Radioisotopes; Seizures; Tetany; Time Factors

Topics: Acid Phosphatase; Animals; Animals, Newborn; Axons; Glucosephosphate Dehydrogenase; Growth; Mice; Microscopy, Electron; NAD; Neurons; Seizures

Topics: Acid Phosphatase; Animals; Brain; Glycoside Hydrolases; In Vitro Techniques; Lysosomes; Methionine; Methionine Sulfoximine; Rats; Seizures