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Lysosomal alpha-D-mannosidase.

T Beccari1, S Stinchi, A Orlacchio

  • 1Dipartimento di Biologia Cellulare e Molecolare, Sezione di Biochimica e Biologia Molecolare, Università degli Studi di Perugia, Italy. dbcm@krene.it

Bioscience Reports
|October 8, 1999
PubMed
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Alpha-mannosidosis is a genetic disorder affecting glycoprotein breakdown. This review details the alpha-D-mannosidase gene in multiple species and mutations causing the disease.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Alpha-mannosidosis is an autosomal recessive lysosomal storage disease.
  • It results from deficient lysosomal alpha-D-mannosidase activity.
  • This enzyme is crucial for breaking down N-linked glycoproteins.

Purpose of the Study:

  • To review genes coding for lysosomal alpha-D-mannosidase in humans, mice, bovines, and felines.
  • To examine gene structure, promoters, and disease-causing mutations.
  • To report the creation of a mouse model for alpha-mannosidosis.

Main Methods:

  • Comparative gene analysis (exon-intron structure, promoters).
  • Mutation identification in affected individuals and species.
  • Homologous recombination for generating a mouse model.

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Main Results:

  • Detailed examination of alpha-D-mannosidase genes across species.
  • Identification of various mutations linked to alpha-mannosidosis.
  • Successful construction of a homologous recombination-derived mouse model.

Conclusions:

  • Understanding the genetic basis of alpha-mannosidosis is key to developing therapies.
  • The mouse model provides a valuable tool for studying disease mechanisms and testing treatments.
  • Further research into lysosomal alpha-D-mannosidase function and dysfunction is warranted.