Human Molecular Genetics, Vol 7, 53-62, Copyright © 1998 by Oxford University Press
AG Bijvoet, EH van de Kamp, MA Kroos, JH Ding, BZ Yang, P Visser, CE Bakker, MP Verbeet, BA Oostra, AJ Reuser and AT van der Ploeg
Glycogen storage disease type II (GSDII; Pompe disease), caused by
inherited deficiency of acid alpha-glucosidase, is a lysosomal disorder
affecting heart and skeletal muscles. A mouse model of this disease was
obtained by targeted disruption of the murine acid alpha-glucosidase gene
(Gaa) in embryonic stem cells. Homozygous knockout mice (Gaa -/-) lack Gaa
mRNA and have a virtually complete acid alpha-glucosidase deficiency.
Glycogen-containing lysosomes are detected soon after birth in liver, heart
and skeletal muscle cells. By 13 weeks of age, large focal deposits of
glycogen have formed. Vacuolar spaces stain positive for acid phosphatase
as a sign of lysosomal pathology. Both male and female knockout mice are
fertile and can be intercrossed to produce progeny. The first born knockout
mice are at present 9 months old. Overt clinical symptoms are still absent,
but the heart is typically enlarged and the electrocardiogram is abnormal.
The mouse model will help greatly to understand the pathogenic mechanism of
GSDII and is a valuable instrument to explore the efficacy of different
therapeutic interventions.
ARTICLES
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease
Department of Clinical Genetics, Erasmus University, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands.
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