Department of Rare Diseases

Marzena Wojciechowska, PhD Associate Professor
Head of Department

marzena.wojciechowska@ibch.poznan.pl
ext. 1308

Research activity

Research area

Search for novel biomarkers of myotonic dystrophy type 1 (DM1) and type 2 (DM2).
Understanding the biological role of circular RNAs in DM1 and DM2 pathogenesis.
Search for new therapeutic tools alleviating DM2 pathogenesis via high-throughput screening of small-molecule compounds.
Molecular mechanisms and consequences of non-canonical splicing of introns and introns retention in neuromuscular disorders.

Keywords

Rare diseases;
myotonic dystrophies;
circular RNAs;
non-canonical RNA splicing;
small-molecule compounds;
intron retention

Research Projects

1. Deciphering the molecular causes and consequences of circular RNAs elevated expression levels in myotonic dystrophy type 1(DM1)/OPUS

Leader: Arvind Srinivasan, MsC, PhD student
Related publications:

The formation of circular RNAs. Srinivasan A. and Wojciechowska M.; Book: Circular RNAs: Biogenesis and Functions; Springer Nature, 2024.
Global Increase in Circular RNA Levels in Myotonic Dystrophy. Czubak K, Taylor K, Piasecka A, Sobczak K, Kozlowska K, Philips A, Sedehizadeh S, Brook JD, Wojciechowska M, Kozlowski P. Frontiers in Genetics. 2019 Jul 18;10:649. doi: 10.3389/fgene.2019.00649.
An Overview of Circular RNAs and Their Implications in Myotonic Dystrophy. Czubak K, Sedehizadeh S, Kozlowski P, Wojciechowska M. Int J Mol Sci. 2019 Sep 6;20(18):4385. doi: 10.3390/ijms20184385.
Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients. Sedehizadeh S, Wojciechowska M, Ketley A, Brook JD, Maddison P. Journal of Neurology. 2022 May;269(5):2784-2787. doi: 10.1007/s00415-021-10917-8
Regulation of Toxic RNA Foci and Mutant DMPK Transcripts: Role of MBNL Proteins and RNA Decay Pathways. Xiaomeng Xing, Robert Markus, Tushar Ghosh, Sarah Buxton, Daniel J. Nieves, Marzena Wojciechowska, J. David Brook. bioRxiv preprint doi: https://doi.org/10.1101/2023.09.28.559487.

2. Cell-based high-throughput screening for small-molecule compounds diminishing molecular markers of pathogenesis in myotonic dystrophy type 2 (DM2)/OPUS

Leader: Revathi Gurunathan, PhD, Postdoctoral fellow
Related publications:

CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model. Ketley A, Wojciechowska M, Ghidelli-Disse S, Bamborough P, Ghosh TK, Morato ML, Sedehizadeh S, Malik NA, Tang Z, Powalowska P, Tanner M, Billeter-Clark R, Trueman RC, Geiszler PC, Agostini A, Othman O, Bösche M, Bantscheff M, Rüdiger M, Mossakowska DE, Drewry DH, Zuercher WJ, Thornton CA, Drewes G, Uings I, Hayes CJ, Brook JD. Science Translational Medicine. 2020 Apr 29;12(541):eaaz2415. doi: 10.1126/scitranslmed.aaz2415.
Small Molecules Which Improve Pathogenesis of Myotonic Dystrophy Type 1. López-Morató M, Brook JD, Wojciechowska M. Frontiers in Neurology, 2018 May 18;9:349. doi: 10.3389/fneur.2018.00349.

3. Non-canonical pre-mRNA splicing participates in the editing of CNBP mutant allele in myotonic dystrophy type 2 (DM2)/PRELUDIUM BIS

Leader: Emilia Mroczko, MsC, PhD student
Related publications:

Differential fates of introns in gene expression due to global alternative splicing. Kumari A, Sedehizadeh S, Brook JD, Kozlowski P, Wojciechowska M. Human Genetics, 2022 Jan;141(1):31-47. doi: 10.1007/s00439-021-02409-6.

Selected publications

Arvind Srinivasan and Marzena Wojciechowska. Book Chapter: The formation of circular RNAs. Springer Nature: Circular RNAs: Biogenesis and Functions (2024).
Xiaomeng Xing, Robert Markus, Tushar Ghosh, Sarah Buxton, Daniel J Nieves, Marzena Wojciechowska, J David Brook. Regulation of toxic RNA foci and repeat expansion DMPK transcripts: role of MBNL proteins and RNA decay pathways. bioRxiv doi: https://doi.org/10.1101/2023.09.28.559487 (2023).
S. Sedehizadeh, M. Wojciechowska, A. Ketley, J. D. Brook, P. Maddison. Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients. Journal of Neurology. 10.1007/s00415-021-10917-8 (2022).
Anjani Kumari, Saam Sedehizadeh, John David Brook, Piotr Kozlowski, Marzena Wojciechowska. Differential fates of introns in gene expression due to global alternative splicing. Human Genetics. 10.1007/s00439-021-02409-6 (2022).
Ketley A, Wojciechowska M, Ghidelli-Disse S, Bamborough P, Ghosh TK, Morato ML, Sedehizadeh S, Malik NA, Tang Z, Powalowska P, Tanner M, Billeter-Clark R, Trueman RC, Geiszler PC, Agostini A, Othman O, Bösche M, Bantscheff M, Rüdiger M, Mossakowska DE, Drewry DH, Zuercher WJ, Thornton CA, Drewes G, Uings I, Hayes CJ, Brook JD. CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model. Science Translational Medicine. 10.1126/scitranslmed.aaz2415 (2020).
K. Czubak, K. Taylor, A. Piasecka, K. Sobczak, K. Kozłowska, A. Philips, S. Sedehizadeh, J. D. Brook, M. Wojciechowska, P. Kozlowski. Global increase in circRNA levels in myotonic dystrophy. Frontiers in Genetics. 10.3389/fgene.2019.00649. eCollection (2019).
Czubak K, Sedehizadeh S, Kozlowski P, Wojciechowska M. An Overview of Circular RNAs and Their Implications in Myotonic Dystrophy. International Journal of Molecular Sciences. 10.3390/ijms20184385 (2019).
M. Lopez-Morato, J. David Brook and M. Wojciechowska. Small molecules which improve pathogenesis of myotonic dystrophy type 1 (DM1). Frontiers Neurology. doi.org/10.3389/fneur.2018.00349 (2018).
Marzena Wojciechowska, Krzysztof Sobczak, Piotr Kozlowski, Saam Sedehizadeh, Agnieszka Wojtkowiak-Szlachcic, Karol Czubak, Robert Markus, Anna Lusakowska, Anna Kaminska, and J. David Brook. Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy. Scientific Reports, doi: 10.1038/s41598-018-24156-x. (2018).

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