Ei valokuvaa Jana Buzkova

Jana Buzkova, PhD

  • PL 22 (Haartmaninkatu 4)




Tutkimustuotoksia vuodessa

Henkilökohtainen profiili



2009 – 2019


PhD degree at Research Program of Molecular Neurology, Anu Suomalainen-Wartiovaara´s Group, University of Helsinki, Finland

PhD project: The physiological consequences of mitochondrial dysfunction in humans
(supervisor: Prof. Anu Suomalainen – Wartiovaara)


2006 - 2009


Master degree at Charles University in Prague, Czech Republic

Specialization: Cellular and Developmental Biology

Master thesis: Detailed Phenotype of the Transgenic Mice with Twinkle-PEO mutations (supervisors: Prof. A. Suomalainen - Wartiovaara, H.Tyynismaa, PhD)

2003 – 2006


Bachelor degree in Biology at Charles University in Prague, Czech Republic

Bachelor thesis: Mitochondrial DNA deletions in pathology of mitochondrial disorders (supervisors: Prof. Jiří Zeman, Ing. Markéta Tesařová, PhD) 





Work experience:

2008 - 2009



Laboratory for Study Mitochondrial Disorders, Department of Pediatric, Faculty of Medicine, Charles University in Prague, Czech Republic

Project: Characterization of TMEM70, a new factor of ATP synthase
(supervisors: Prof. Jiří Zeman, Ing. Markéta Tesařová,PhD)


2007 – 2008


Undergraduate student within the European Student Exchange Program (ERASMUS)

Anu Suomalainen – Wartiovaara´s Group,  Program of Molecular Neurology, University of Helsinki, Finland

Projects:  -     Detection of DARS2 mutations in patients with multiple sclerosis (this      work resulted in a scientific publication; see below)

    -     Detailed characterization of phenotype of the transgenic mice with Twinkle-PEO mutations (results published in the master thesis)


2004 – 2007


Undergraduate researcher

Laboratory for Study Mitochondrial Disorders, Department of Pediatric, Faculty of Medicine, Charles University in Prague, Czech Republic

Project: Detection of mtDNA deletions in muscle samples of mitochondrial patients using different detection techniques



Tutkimuksen ja opetuksen kuvaus

Mitochondria control ATP production and energy expenditure. Therefore it is of great interest that defects of mitochondrial dysfunction can lead either to thinness or overweight. Adipose tissue is a key player in obesity-related metabolic dysfunction. These obesity-related changes increase person´s risk of diabetes, insulin resistance and cardiovascular disease. We have collected fat, muscle and serum samples from 22 mitochondrial disease patients, 24 relatives and 30 healthy controls. Both DNA and RNA were isolated from fat and muscle samples. Total cellular RNA from adipose tissue of selected patients and controls was used for microarray experiment. The data has been normalized and confirmed by q-PCR on selected changed transcripts. Differentially expressed genes with significant change (p value < 0.05) were then used for a pathway analysis. MtDNA copy number in fat and muscle was established by two quantitative PCR methods (using Taqman and SyberGreen probes). Interestingly, in adipose tissue of healthy individuals mtDNA content tends to increase with age. All our mitochondrial disease patients showed mild or extensive decline of mtDNA copy number in the adipose tissue regardless their BMI. This result might suggest that the mtDNA depletion in our mitochondrial disease patient is caused by genetic defects in mitochondrial replication and maintenance.


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