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| NEUROPATHOLOGY OF MICE WITH TARGETED DISRUPTION OF HEXA GENE, A MODEL OF TAY-SACHS-DISEASE |
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| Author(s): TANIIKE M, YAMANAKA S, PROIA RL, LANGAMAN C, BONETURRENTINE T, SUZUKI K |
| Source: ACTA NEUROPATHOLOGICA Volume: 89 Issue: 4 Pages: 296-304 Published: APR 1995 |
| Times Cited: 48 References: 16 |
| Abstract: A murine model of Tay-Sachs disease, the prototype of the GM(2) gangliosidoses, was produced through the targeted disruption of the Hexa gene encoding the subunit of alpha-hexosaminidase A. The mice were completely devoid of beta-hexosaminidase A activity and accumulated GM(2) ganglioside in the CNS in an age-dependent manner. Neurons with membranous cytoplasmic bodies (MCBs), identical to those described in Tay-Sachs disease, were identified in the brain of these mice. The neurons with MCBs were periodic acid-Schiff-positive on frozen sections and immunostained with anti-GM(2) ganglioside antibody. However, unlike Tay-Sachs disease in which neurons throughout the brain are affected, the localization of storage neurons in these mice appeared ts be limited to certain regions, i.e., cerebral cortex, the hippocampus, amygdala, hypothalamus, mammillary nucleus, etc. Storage neurons were absent in the olfactory bulb, cerebellar cortex and spinal anterior hems. The difference in the distribution of storage neurons suggests a difference of ganglioside metabolism between humans and mice. This model is useful for the study of the pathogenic mechanisms of neuronal storage in Tay-Sachs disease and for the evaluation of therapeutic strategies. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV N CAROLINA, DEPT PATHOL, CHAPEL HILL, NC 27599 USA
2. UNIV N CAROLINA, BRAIN & DEV RES CTR, CHAPEL HILL, NC 27599 USA
3. NIDDKD, BIOCHEM GENET SECT, GENET & BIOCHEM BRANCH, BETHESDA, MD 20892 USA |
| Publisher: SPRINGER VERLAG, 175 FIFTH AVE, NEW YORK, NY 10010 |
| Subject Category: Clinical Neurology; Neurosciences; Pathology |
| IDS Number: QM220 |
| ISSN: 0001-6322 |
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