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Muscle Nerve. 2011 May;43(5):665-70. doi: 10.1002/mus.21933.

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.

Author information

1
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 801 Capitola Drive, Suite 6, Durham, North Carolina 27713, USA. bali0001@mc.duke.edu

Abstract

INTRODUCTION:

Pompe disease (glycogen storage disease type II, acid maltase deficiency) is caused by deficiency of lysosomal acid α-glucosidase (GAA). A few late-onset patients have been reported with skin fibroblast GAA activity levels of <2%.

METHODS:

We measured GAA activity in skin fibroblasts from 101 patients with late-onset Pompe disease. Whenever possible, we performed Western blot analysis and correlated the results with GAA activity and GAA gene mutations.

RESULTS:

Thirteen patients (13%) had skin fibroblast GAA activity of <1% of normal. Although there was wide genetic heterogeneity, none of these patients carried the common late-onset mutation c.-32-13T > G. We performed Western blot on 11 patients with <1% GAA activity. All produced GAA protein that was at lower levels and/or was abnormally processed.

DISCUSSION:

There is no common mutation associated with <1% GAA activity in late-onset Pompe disease patients. Most patients produce unprocessed forms of GAA protein compared with patients with higher GAA activity.

PMID:
21484825
DOI:
10.1002/mus.21933
[Indexed for MEDLINE]

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