Research output per year
Research output per year
Personal profile
Curriculum vitae
Education:
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2009 – 2019
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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
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2006 - 2009
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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) |
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2003 – 2006
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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) |
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Work experience:
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2008 - 2009
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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
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2007 – 2008
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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)
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2004 – 2007
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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
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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.
Fields of Science
- 118 Biological sciences
- Mitochondrial disorders
- Obesity
- Metabolism, metabolomics, biomarkers,
- Mitochondrial dysfunction
- mitochondrial gene expression
- 3112 Neurosciences
- mitochondrial disease
- Neurodegeneration
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Dynamics of blood NAD and glutathione in health, disease, aging, and under NAD+-booster treatment
Euro, L., Haimilahti, K., Jansson, S., Forsström, S., Buzkova, J. & Suomalainen, A., Oct 2026, In: Redox biology. 96, 14 p., 104343.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
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: Thesis › Doctoral Thesis › Collection of Articles
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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 journal › Article › Scientific › peer-review
Open AccessFile -
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. & Pietiläinen, K. H., Jan 2017, In: Diabetologia. 60, 1, p. 169-181 13 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
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 others, , 12 Apr 2016, In: Cell Metabolism. 23, 4, p. 635-648 14 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open Access
Projects
- 1 Active
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Mitochondrial metabolism at cross-roads of nervous system health and disease
Suomalainen Wartiovaara, A. (Project manager), Buzkova, J. (Participant), Hovinen, T. S. (Participant), Jansson, S. M. (Participant), Pradhan, S. S. (Participant), Roy, M. (Participant), Sultan, I. (Participant) & Zielke, N. (Participant)
Suomen Akatemia Projektilaskutus
01/09/2024 → 31/12/2026
Project: Research Council of Finland: Academy Professor's research expenses
Activities
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XXVI Paulo Foundation Symposium, From Atomic Structures to Disease Mechanisms
Buzkova, J. (Poster Presentation)
10 Jun 2015 → 12 Jun 2015Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
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University of California Berkeley
Buzkova, J. (Visiting researcher)
27 Feb 2015 → 31 Mar 2015Activity: Visiting an external institution types › Academic visit to other institution
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AUTOPHAGY IN CELLULAR HOMESTASIS, DEVELOPMENT AND DISEASE
Buzkova, J. (Attendee)
21 Mar 2015Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
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9th Annual BCSC Symposium, Insights into Metabolism of Human Diseases
Buzkova, J. (Speaker: Presenter)
4 Nov 2014 → 5 Nov 2014Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
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International Meeting on Mitochondrial Pathology
Buzkova, J. (Poster Presentation)
14 Jun 2014 → 19 Jun 2014Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars