Department of Neuromuscular Disorders

Head
Prof. Andrzej Kochański M.D.; PhD, phone: +48 22 60 86 526, This email address is being protected from spambots. You need JavaScript enabled to view it.
Secretariat
Ewa Witkowska, phone: +48 22 60 86 526, phone/fax. +48 22 60 86 631; This email address is being protected from spambots. You need JavaScript enabled to view it.
Research staff
Dagmara Kabzińska PhD , phone: +48 22 60 86 506; This email address is being protected from spambots. You need JavaScript enabled to view it.
Weronika Rzepnikowska PhD, phone: +48 22 60 86 506; wrzepnikowska.pan.pl
Technical staff
Anna Rybińska, phone: +48 22 60 86 408; This email address is being protected from spambots. You need JavaScript enabled to view it.
PhD students
Katarzyna Chabros MSc, phone: +48 22 60 86 506, This email address is being protected from spambots. You need JavaScript enabled to view it.

Research profile
• clinical studies in neuromuscular disorders
• genetic analysis
• yeast-based models of neurodegenerative disorders
Grants
• Patomechanism of Charcot-Marie-Tooth typu 4A disease –on the way to therapy, 2016/23/B/NZ3/02035 prof. Andrzej Kochański, 2017-2021
• Floppy infant syndrome-searching for new genetic factors in ethiopathogenesis of the disease, with particular consideration of neuromuscular disorders. Dr Maria Jedrzejowska, 2016 – 2019
• Molecular etiopathogenesis study in hereditary sensory neuropathies, OPUS4, 2012/07/B/NZ4/01748, dr Dagmara Kabzińska, 2013 - 2016

Collaboration
domestic
• Department of Genetics Institute of Biophysics and Biochemistry Polish Academy of Sciences, Warsaw
• Department of Cardiology, Warsaw Medical University, Warsaw
• Department of Genetics, Institute of Mother and Child, Warsaw
foreign
• Laboratory of Neurogenetics, University of Antwerpen , Antwerp, Belgium
• Laboratory of Molecular Medicine, University of Sydney, Sydney, Australia
• Institute of Neurology, London University, London, Great Britain

Research equipment
• thermocyclers
• cryostat
• ultramicrotom Reichert
• microscope for light and immunofluorescence microscopy
• apparatus for spectrophotometry, immunohistochemistry and protein electrophoresis

Research methods
• Mutagenesis
• Western blott
• siRNA methods
• confocal microscopy
• cell culture (yeasts and eukaryotic cells)

Selected publications

  • The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors? Kabzińska D, Chabros K, Kamińska J, Kochański A.Genes (Basel). 2022 Aug 27;13(9):1546. doi: 10.3390/genes13091546.PMID: 36140714 Free PMC article.
  • Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.Rzepnikowska W, Kaminska J, Kochański A. Int J Mol Sci. 2022 Aug 31;23(17):9913. doi: 10.3390/ijms23179913.PMID: 36077311 Free PMC article.
  • Models for IGHMBP2-associated diseases: an overview and a roadmap for the future.Rzepnikowska W, Kochański A. Neuromuscul Disord. 2021 Dec;31(12):1266-1278. doi: 10.1016/j.nmd.2021.08.001. Epub 2021 Aug 13.PMID: 34785121
  • Binięda K, Rzepnikowska W, Kolakowski D, Kaminska J, Szczepankiewicz AA, Nieznańska H, Kochański A, Kabzińska D. Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.Int J Mol Sci. 2021Jan18;22(2):914. doi:10.3390/ijms22020914.PMID: 33477664
  • Safka Brozkova D, Stojkovic T, Haberlová J, Mazanec R, Windhager R, Fernandes Rosenegger P, Hacker S, Züchner S, Kochański A, Leonard-Louis S, Francou B, Latour P, Senderek J, Seeman P, Auer-Grumbach M.Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations. Eur J Neurol. 2020 Aug 5. doi: 10.1111/ene.14463. Online ahead of print. PMID: 32757322
  • Rzepnikowska W, Kaminska J, Kabzińska D, Binięda K, Kochański A. A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases. Int J Mol Sci. 2020 Jun 16;21(12):4277. doi: 10.3390/ijms21124277.PMID: 2560077
  • Rzepnikowska W, Kaminska J, Kabzińska D, Kochański A.Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model. Genes (Basel). 2020 Mar 14;11(3):310. doi: 10.3390/genes11030310. PMID: 32183277
  • Jezela-Stanek A, Ciara E, Jurkiewicz D, Kucharczyk M, Jędrzejowska M, Chrzanowska KH, Krajewska-Walasek M, Żemojtel T.The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. Mol Genet Genomic Med. 2020 Sep;8(9):e1263. doi: 10.1002/mgg3.1263. Epub 2020 Apr 26.PMID: 32337850
  • Jędrzejowska M, Dębek E, Kowalczyk B, Halat P, Kostera-Pruszczyk A, Ciara E, Jezela-Stanek A, Rydzanicz M, Gasperowicz P, Gos M The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene. Muscle Nerve. 2019 Jan;59(1):129-133. doi: 10.1002/mus.26346. Epub 2018 Oct 26. PMID: 30230566
  • Stępień A, Jędrzejowska M, Guzek K, Rekowski W, Stępowska J.Reliability of four tests to assess body posture and the range of selected movements in individuals with spinal muscular atrophy. BMC Musculoskelet Disord. 2019 Feb 7;20(1):54. doi: 10.1186/s12891-018-2389-8. PMID: 30732590
  • Viggiano E, Madej-Pilarczyk A, Carboni N, Picillo E, Ergoli M, Gaudio SD, Marchel M, Nigro G, Palladino A, Politano L.X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers. Genes (Basel). 2019 Nov 11;10(11):919. doi: 10.3390/genes10110919.PMID: 31718017
  • Madej-Pilarczyk A. Clinical aspects of Emery-Dreifuss muscular dystrophy. Nucleus. 2018 Jan 1;9(1):268-274. doi: 10.1080/19491034.2018.1462635.PMID: 29633897
  • Beręsewicz M, Charzewski Ł, Krzyśko KA, Kochański A, Zabłocka B.Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity. Sci. Rep. 2018 Nov 15;8(1):16900. doi: 10.1038/s41598-018-35133-9. PMID: 30442897
  • Beręsewicz M, Boratyńska-Jasińska A, Charzewski Ł, Kawalec M, Kabzińska D, Kochański A, Krzyśko KA, Zabłocka B.The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient. PLoS One. 2017 Jan 11;12(1):e0169999. doi: 10.1371/journal.pone.0169999. eCollection 2017.PMID: 28076385
  • Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H.Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 0.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30.PMID: 25439726
  • Kucharczyk M, Kochański A, Jezela-Stanek A, Kugaudo M, Sielska-Rotblum D, Gutkowska A, Krajewska-Walasek M.The first case of a patient with de novo partial distal 16q tetrasomy and a data's review. Am J Med Genet A. 2014 Oct;164A(10):2541-50. doi: 10.1002/ajmg.a.36686. Epub 2014 Aug 8. PMID: 25111638