Sequestration of MBNL1 Protein by Mutant ZNF9 mRNA in Lymphocytes of Patients with Myotonic Dystrophy Type 2

0390265 - BFÚ 2013 RIV CZ eng J - Journal Article
Souček, O. - Voháňka, S. - Zaorálková, J. - Falková, I. - Hrabálková, R. - Falk, Martin - Lukáš, Z.
Sequestration of MBNL1 Protein by Mutant ZNF9 mRNA in Lymphocytes of Patients with Myotonic Dystrophy Type 2.
Česká a Slovenská neurologie a neurochirurgie. Roč. 75, č. 5 (2012), s. 606-609. ISSN 1210-7859. E-ISSN 1802-4041
Institutional research plan: CEZ:AV0Z50040702
Institutional support: RVO:68081707
Keywords : myotonic dystrophy * lymphocytes * MBNL1 sequestration
Subject RIV: BO - Biophysics
Impact factor: 0.372, year: 2012

Myotonic dystrophy type 2 (DM2) results from the (CCTG)n expansion in the ZNF9 gene located on the long arm of chromosome 3. The pathogenesis of DM2 includes sequestration of muscleblind-like (MBNL) proteins by pathological CCUG(exp) ZNF9 mRNA transcripts, leading to abnormal splicing of target pre-mRNAs and, consequently, to the development of the pathological phenotype. In this report, we demonstrate expression of the ZNF9 transcript, ZNF9 protein as well as MBNL1 protein in lymphocytes of non-DM controls and DM2 patients. In DM2 patients lymphocytes, MBNL1 protein is co-localized and partly sequestered in CCUG(exp) ZNF9 mRNA intranuclear foci.
Permanent Link: http://hdl.handle.net/11104/0219132