Inherited lysosomal storage disease associated with deficiencies of β-galactosidase and α-neuraminidase in sheep

A. J. Ahern-Rindell, D. J. Prieur, R. D. Murnane, S. S. Raghavan, P. F. Daniel, R. H. McCluer, S. U. Walkley, S. M. Parish

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23 Scopus citations

Abstract

Histopathologic, ultrastructural and Golgi impregnation studies disclosed lesions characteristic of a neuronal lysosomal storage disease in related sheep with onset of neurologic signs at 4-6 months. Biochemical and enzymatic evaluation disclosed storage of GM1 ganglioside, asialo-GM1, and neutral long chain oligosaccharides in brain, urinary excretion of neutral long chain oligosaccharides, and deficiencies of lysosomal β-galactosidase and α-neuraminidase. Retrospective and limited prospective genetic studies suggested autosomal recessive inheritance. A gene-dosage effect on β-galactosidase levels was documented in fibroblasts from putative heterozygous sheep. Fibroblasts from affected sheep did not have increased β-galactosidase activity after incubation with the protease inhibitor, leupeptin. In some aspects this disease is similar to GM1 gangliosidosis, but is unique in that a genetic defect in lysosomal β-galactosidase may cause the deficiency of lysosomal α-neuraminidase.

Original languageEnglish (US)
Pages (from-to)39-56
Number of pages18
JournalAmerican journal of medical genetics
Volume31
Issue number1
DOIs
StatePublished - Jan 1 1988
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Ahern-Rindell, A. J., Prieur, D. J., Murnane, R. D., Raghavan, S. S., Daniel, P. F., McCluer, R. H., Walkley, S. U., & Parish, S. M. (1988). Inherited lysosomal storage disease associated with deficiencies of β-galactosidase and α-neuraminidase in sheep. American journal of medical genetics, 31(1), 39-56. https://doi.org/10.1002/ajmg.1320310108