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  • PL 22 (Haartmaninkatu 4)

    00014

    Finland

20102019
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Personal profile

Curriculum vitae

Education:

2009 – present   

 

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

 

Researcher

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

 

 
  
  
  

Description of research and teaching

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.

Keywords

  • 118 Biological sciences
  • Mitochondrial disorders
  • Obesity
  • Metabolism, metabolomics, biomarkers,
  • Mitochondrial dysfunction
  • mitochondrial gene expression
  • 3112 Neurosciences
  • mitochondrial disease
  • Neurodegeneration

International and National Collaboration Publications and projects within past five years.

Publications 2010 2019

The metabolic and molecular consequences of mitochondrial dysfunction in mitochondrial disease and acquired obesity

Buzkova, J., Feb 2019, Helsinki: University of Helsinki. 98 p.

Research output: ThesisDoctoral ThesisCollection of Articles

Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers

Buzkova, J., Nikkanen, J., Ahola, S., Hakonen, A. H., Sevastianova, K., Hovinen, T., Yki-Järvinen, H., Pietiläinen, K. H., Lönnqvist, T., Velagapudi, V., Carroll, C. J. & Suomalainen, A., Dec 2018, In : EMBO molecular medicine. 10, 12, 15 p., 9091.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Mitochondria-related transcriptional signature is downregulated in adipocytes in obesity: a study of young healthy MZ twins

Heinonen, S., Muniandy, M., Buzkova, J., Mardinoglu, A., Rodriguez, A., Fruhbeck, G., Hakkarainen, A., Lundbom, J., Lundbom, N., Kaprio, J., Rissanen, A. & Pietilainen, K. H., Jan 2017, In : Diabetologia. 60, 1, p. 169-181 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism

Nikkanen, J., Forsstrom, S., Euro, L., Paetau, I., Kohnz, R. A., Wang, L., Chilov, D., Viinamaki, J., Roivainen, A., Marjamaki, P., Liljenback, H., Ahola, S., Buzkova, J., Terzioglu, M., Khan, N. A., Pirnes-Karhu, S., Paetau, A., Lonnqvist, T., Sajantila, A., Isohanni, P. & 6 othersTyynismaa, H., Nomura, D. K., Battersby, B. J., Velagapudi, V., Carroll, C. J. & Suomalainen, A., 12 Apr 2016, In : Cell Metabolism. 23, 4, p. 635-648 14 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathypatients

Ahola, S., Auranen, M., Isohanni, P., Niemisalo, S., Urho, N., Buzkova, J., Velagapudi, V., Lundbom, N., Hakkarainen, A., Muurinen, T., Piirilä, P., Pietilainen, K. H. & Suomalainen, A., Nov 2016, In : EMBO molecular medicine. 8, 11, p. 1234-1247 14 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Activities 2009 2015

  • 17 Organisation and participation in conferences, workshops, courses, seminars
  • 1 Membership or other role in national/international committee, council, board
  • 1 Academic visit to other institution

AUTOPHAGY IN CELLULAR HOMESTASIS, DEVELOPMENT AND DISEASE

Jana Buzkova (Attendee)
21 Mar 2015

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

University of California Berkeley

Jana Buzkova (Visiting researcher)
27 Feb 201531 Mar 2015

Activity: Visiting an external institution typesAcademic visit to other institution

XXVI Paulo Foundation Symposium, From Atomic Structures to Disease Mechanisms

Jana Buzkova (Poster Presentation)
10 Jun 201512 Jun 2015

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

9th Annual BCSC Symposium, Insights into Metabolism of Human Diseases

Jana Buzkova (Speaker: Presenter)
4 Nov 20145 Nov 2014

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

International Meeting on Mitochondrial Pathology

Jana Buzkova (Poster Presentation)
14 Jun 201419 Jun 2014

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars