Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1 |
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| Authors: | S Salvatori M Fanin C P Trevisan S Furlan S Reddy J I Nagy C Angelini |
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| Institution: | (1) Department of Biomedical Sciences, University of Padova, Viale G. Colombo 3, Padova, Italy;(2) Department of Neurosciences, University of Padova, Via Giustiniani 5, Padova, Italy;(3) C.N.R., Istituto di Neuroscienze, Sezione di Padova, Viale G. Colombo 3, Padova, Italy;(4) Institute for Genetic Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA;(5) Department of Physiology, University of Manitoba, 730 William Avenue, Winnipeg, Canada R3E 3J7 |
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| Abstract: | Abstract Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a trinucleotide repeatexpansion, cytosine-thymine-guanine
(CTG)n, in the 3′ untranslated region of a gene encoding the myotonic dystrophy protein kinase (DMPK). To correlate CTG expansion
and protein expression, we studied muscle specimens from 16 adult DM1 patients using three anti-DMPK antibodies for immunoblotting.
We estimated the amount of the full-length DMPK (85 kDa) in muscle biopsies from normal controls and from DM1 patients carrying
different (CTG)n expansions. We found that DMPK concentration was decreased to about 50% in DM patients’ muscles; the protein decrease did
not seem correlated with the CTG repeat length. However, the fibre type composition in skeletal muscle seemed somehow to affect
DMPK decrease, as the lowest level of the enzyme was found in patients with the lowest content of type 1 fibre. |
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| Keywords: | Myotonic dystrophy Protein kinase Trinucleotide repeat Human skeletal muscle |
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