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Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development.

Abstract：

:The deficiency of a lysosomal enzyme, aspartylglucosaminidase, results in a lysosomal storage disorder, aspartylglucosaminuria, manifesting as progressive mental retardation. To understand tissue pathogenesis and disease progression we analyzed the developmental expression of the enzyme, especially in brain, which is the major source of the pathological symptoms. Highest mRNA levels in brain were detected during embryogenesis, the levels decreased neonatally and started to increase again from Day 7 on. In Western analyses, a defective processing of aspartylglucosaminidase was observed in brain as compared to other tissues, resulting in very low levels of the mature, active form of the enzyme. Interestingly immunohistochemical analyses of mouse brain revealed that aspartylglucosaminidase immunoreactivity closely mimicked the myelin basic protein immunostaining pattern. The only evident neuronal staining was observed in the developing Purkinje cells of the cerebellum from Days 3 to 10, reflecting well the mRNA expression. In human infant brain, the immunostaining was also present in myelinated fibers as well as in the Purkinje cells and, additionally, in the soma and extensions of other neurons. In the adult human brain neurons and oligodendrocytes displayed immunoreactivity whereas myelinated fibers were not stained. Our results of aspartylglucosaminidase immunostaining in myelinated fibers of infant brain might imply the involvement of aspartylglucosaminidase in the early myelination process. This is consistent with previous magnetic resonance imaging findings in the brains of aspartylglucosaminuria patients, revealing delayed myelination in childhood.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Uusitalo A,Tenhunen K,Heinonen O,Hiltunen JO,Saarma M,Haltia M,Jalanko A,Peltonen L

doi

10.1006/mgme.1999.2872

subject

Has Abstract

pub_date

1999-08-01 00:00:00

pages

294-307

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(99)92872-X

journal_volume

67

pub_type

杂志文章

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