Mitochondrial diseases

 

P.I.

Prof. Dr. hab. Ewa Bartnik ebartnik(at)igib.uw.edu.pl

Dr. Hab. Katarzyna Tońska kaska(at)igib.uw.edu.pl


Team


Ph.D. students


Research

Research of our team focuse on mitochondrial disorders, which are genetic diseases influencing a variety of organs, but mostly the central nervous system and muscles. Their diagnosis is difficult due to wide array of symptoms and the complexity of the genetic tests involved.

We are particularly interested in understanding mitochondrial gene expression, nuclear-mitochondrial interaction, and role of mitochondria DNA mutations in cancer and ageing. Our team is particularly involved in studies on the Leber hereditary optic neuropathy.


Selected publications

  • Khan MI, Czarnecka AM, Helbrecht I, Bartnik E, Lian F, Szczylik C. 2015. Current approaches in identification and isolation of human renal cell carcinoma cancer stem cells. Stem Cell Res Ther. 6: 178.
  • Myszczyszyn A, Czarnecka AM, Matak D, Szymanski L, Lian F, Kornakiewicz A, Bartnik E, Kukwa W, Kieda C, Szczylik C. 2015. The Role of Hypoxia and Cancer Stem Cells in Renal Cell Carcinoma Pathogenesis. Stem Cell Rev. 2015 Jul 26.
  • Kaliszewska M, Kruszewski J, Kierdaszuk B, Kostera-Pruszczyk A, Nojszewska M, Łusakowska A, Vizueta J, Sabat D, Lutyk D, Lower M, Piekutowska-Abramczuk D, Kaniak-Golik A, Pronicka E, Kamińska A, Bartnik E, Golik P, Tońska K. 2015. Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease. Hum Genet. 134(9): 951-966.
  • Piotrowska A, Korwin M, Bartnik E, Tońska K. 2015. Leber hereditary optic neuropathy - historical report in comparison with the current knowledge. Gene. 555(1): 41-49.
  • Kodroń A, Krawczyński MR, Tońska K, Bartnik E. 2014. m.3635G>A mutation as a cause of Leber hereditary optic neuropathy. J Clin Pathol. 67(7): 639-641.
  • Slawek J, Kierdaszuk B, Tonska K, Kodron A, Schinwelski M, Sitek EJ, Bartnik E, Kaminska A, Kwiecinski H. 2012. Mitochondrial encephalopathy in a patient with a 13042G>A de novo mutation.J Clin Pathol. 65(12): 1147-1149.
  • Tońska K, Piekutowska-Abramczuk D, Kaliszewska M, Kowalski P, Tańska A, Bartnik E, Pronicka E, Krajewska-Walasek M. 2012. Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests. Gene. 506(1): 161-165.
  • Tonska K, Bartnik E. 2012. Sex, death and the (nerve) cell. Front Biosci (Elite Ed). 4: 1830-1835.