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

Publication ,  Journal Article
Bali, DS; Tolun, AA; Goldstein, JL; Dai, J; Kishnani, PS
Published in: Muscle Nerve
May 2011

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.

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Published In

Muscle Nerve

DOI

EISSN

1097-4598

Publication Date

May 2011

Volume

43

Issue

5

Start / End Page

665 / 670

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Young Adult
  • Protein Modification, Translational
  • Neurology & Neurosurgery
  • Mutation
  • Middle Aged
  • Humans
  • Glycogen Storage Disease Type II
  • Enzyme Activation
  • Child
 

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Bali, D. S., Tolun, A. A., Goldstein, J. L., Dai, J., & Kishnani, P. S. (2011). Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity. Muscle Nerve, 43(5), 665–670. https://doi.org/10.1002/mus.21933
Bali, Deeksha S., Adviye A. Tolun, Jennifer L. Goldstein, Jian Dai, and Priya S. Kishnani. “Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.Muscle Nerve 43, no. 5 (May 2011): 665–70. https://doi.org/10.1002/mus.21933.
Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS. Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity. Muscle Nerve. 2011 May;43(5):665–70.
Bali, Deeksha S., et al. “Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.Muscle Nerve, vol. 43, no. 5, May 2011, pp. 665–70. Pubmed, doi:10.1002/mus.21933.
Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS. Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity. Muscle Nerve. 2011 May;43(5):665–670.
Journal cover image

Published In

Muscle Nerve

DOI

EISSN

1097-4598

Publication Date

May 2011

Volume

43

Issue

5

Start / End Page

665 / 670

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Young Adult
  • Protein Modification, Translational
  • Neurology & Neurosurgery
  • Mutation
  • Middle Aged
  • Humans
  • Glycogen Storage Disease Type II
  • Enzyme Activation
  • Child